Linked Data
ClinVar Variation Id:
2373381
ClinVar RCV Id:
RCV004210395
dbSNP Id:
rs1171763315
gnomAD v2:
7-150883549-C-T
gnomAD v4:
7-151186462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186462C>T , CM000669.2:g.151186462C>T | GRCh38 |
| NC_000007.13:g.150883549C>T , CM000669.1:g.150883549C>T | GRCh37 |
| NC_000007.12:g.150514482C>T | NCBI36 |
| NG_017016.1:g.6371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.514G>A MANE Select | ENSP00000391137.2:p.Ala172Thr | |
| ENST00000275838.5:c.514G>A | ENSP00000275838.1:p.Ala172Thr | |
| ENST00000377867.7:c.469G>A | ENSP00000367098.3:p.Ala157Thr | |
| ENST00000420175.2:c.514G>A | ENSP00000391137.2:p.Ala172Thr | |
| NM_001142459.1:c.514G>A | NP_001135931.2:p.Ala172Thr | |
| NM_001142460.1:c.514G>A | NP_001135932.2:p.Ala172Thr | |
| NM_080871.3:c.469G>A | NP_543147.2:p.Ala157Thr | |
| XM_005249949.3:c.649G>A | XP_005250006.1:p.Ala217Thr | |
| NM_001142459.2:c.514G>A MANE Select | NP_001135931.2:p.Ala172Thr | |
| NM_080871.4:c.469G>A | NP_543147.2:p.Ala157Thr |