Gene >> HBE1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292896 |
| Start |
5268514:5268514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.399G>C |
| AA Mutation |
p.Lys133Asn(p.K133N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292896 |
| Start |
5269516:5269516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.253G>A |
| AA Mutation |
p.Ala85Thr(p.A85T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |