Linked Data
dbSNP Id:
rs772751713
ExAC:
7:150883579 C / T
gnomAD v2:
7-150883579-C-T
gnomAD v3:
7-151186492-C-T
gnomAD v4:
7-151186492-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186492C>T , CM000669.2:g.151186492C>T | GRCh38 |
| NC_000007.13:g.150883579C>T , CM000669.1:g.150883579C>T | GRCh37 |
| NC_000007.12:g.150514512C>T | NCBI36 |
| NG_017016.1:g.6341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.484G>A MANE Select | ENSP00000391137.2:p.Ala162Thr | |
| ENST00000275838.5:c.484G>A | ENSP00000275838.1:p.Ala162Thr | |
| ENST00000377867.7:c.439G>A | ENSP00000367098.3:p.Ala147Thr | |
| ENST00000420175.2:c.484G>A | ENSP00000391137.2:p.Ala162Thr | |
| NM_001142459.1:c.484G>A | NP_001135931.2:p.Ala162Thr | |
| NM_001142460.1:c.484G>A | NP_001135932.2:p.Ala162Thr | |
| NM_080871.3:c.439G>A | NP_543147.2:p.Ala147Thr | |
| XM_005249949.3:c.619G>A | XP_005250006.1:p.Ala207Thr | |
| NM_001142459.2:c.484G>A MANE Select | NP_001135931.2:p.Ala162Thr | |
| NM_080871.4:c.439G>A | NP_543147.2:p.Ala147Thr |