Gene >> SERPINA1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355814 |
| Start |
94381026:94381026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763249215
|
| CDS Mutation |
c.762G>C |
| AA Mutation |
p.Gln254His(p.Q254H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355814 |
| Start |
94378547:94378548(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs764325655
|
| CDS Mutation |
c.1158dupC |
| AA Mutation |
p.Glu387ArgfsTer14(p.E387Rfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |