Gene >> THBD
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377103 |
| Start |
23048180:23048180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1325T>G |
| AA Mutation |
p.Ile442Ser(p.I442S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377103 |
| Start |
23048200:23048200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1305C>A |
| AA Mutation |
p.Asp435Glu(p.D435E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |