Gene >> HBE1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292896 |
| Start |
5269821:5269821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.70G>T |
| AA Mutation |
p.Ala24Ser(p.A24S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292896 |
| Start |
5269812:5269812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.79G>C |
| AA Mutation |
p.Glu27Gln(p.E27Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |