Linked Data
ClinVar Variation Id:
421485
ClinVar RCV Id:
RCV000484907
dbSNP Id:
rs367833033
gnomAD v3:
1-154571761-T-C
gnomAD v4:
1-154571761-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571761T>C , CM000663.2:g.154571761T>C | GRCh38 |
| NC_000001.10:g.154544237T>C , CM000663.1:g.154544237T>C | GRCh37 |
| NC_000001.9:g.152810861T>C | NCBI36 |
| NG_008027.1:g.8981T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.938T>C MANE Select | ENSP00000357461.3:p.Val313Ala | |
| ENST00000636034.1:c.938T>C | ENSP00000489703.1:p.Val313Ala | |
| ENST00000637900.1:c.944T>C | ENSP00000490474.1:p.Val315Ala | |
| ENST00000368476.3:c.938T>C | ENSP00000357461.3:p.Val313Ala | |
| NM_000748.2:c.938T>C | NP_000739.1:p.Val313Ala | |
| XM_017000180.2:c.428T>C | XP_016855669.1:p.Val143Ala | |
| XR_001736952.2:n.1190T>C | ||
| NM_000748.3:c.938T>C MANE Select | NP_000739.1:p.Val313Ala |