Gene >> TTR
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237014 |
| Start |
31598616:31598616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267607159
|
| CDS Mutation |
c.385G>A |
| AA Mutation |
p.Ala129Thr(p.A129T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237014 |
| Start |
31593012:31593012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.186G>T |
| AA Mutation |
p.Glu62Asp(p.E62D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |