Linked Data
ClinVar Variation Id:
1601
ClinVar RCV Id:
RCV000001668
dbSNP Id:
rs267606992
gnomAD v3:
1-161077629-G-A
gnomAD v4:
1-161077629-G-A
COSMIC:
COSM1222786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161077629G>A , CM000663.2:g.161077629G>A | GRCh38 |
| NC_000001.10:g.161047419G>A , CM000663.1:g.161047419G>A | GRCh37 |
| NC_000001.9:g.159314043G>A | NCBI36 |
| NG_028109.1:g.16967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368012.4:c.554C>T MANE Select | ENSP00000356991.3:p.Thr185Met | |
| ENST00000368012.3:c.554C>T | ENSP00000356991.3:p.Thr185Met | |
| NM_030916.2:c.554C>T | NP_112178.2:p.Thr185Met | |
| XM_005245508.2:c.554C>T | XP_005245565.1:p.Thr185Met | |
| XM_011510021.1:c.554C>T | XP_011508323.1:p.Thr185Met | |
| XM_011510022.1:c.554C>T | XP_011508324.1:p.Thr185Met | |
| XM_011510023.1:c.554C>T | XP_011508325.1:p.Thr185Met | |
| XM_005245508.3:c.554C>T | XP_005245565.1:p.Thr185Met | |
| XM_011510021.2:c.554C>T | XP_011508323.1:p.Thr185Met | |
| XM_011510022.2:c.554C>T | XP_011508324.1:p.Thr185Met | |
| NM_030916.3:c.554C>T MANE Select | NP_112178.2:p.Thr185Met |