Linked Data
dbSNP Id:
rs751734262
ExAC:
7:150883544 G / T
gnomAD v2:
7-150883544-G-T
gnomAD v3:
7-151186457-G-T
gnomAD v4:
7-151186457-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186457G>T , CM000669.2:g.151186457G>T | GRCh38 |
| NC_000007.13:g.150883544G>T , CM000669.1:g.150883544G>T | GRCh37 |
| NC_000007.12:g.150514477G>T | NCBI36 |
| NG_017016.1:g.6376C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.519C>A MANE Select | ENSP00000391137.2:p.Asp173Glu | |
| ENST00000275838.5:c.519C>A | ENSP00000275838.1:p.Asp173Glu | |
| ENST00000377867.7:c.474C>A | ENSP00000367098.3:p.Asp158Glu | |
| ENST00000420175.2:c.519C>A | ENSP00000391137.2:p.Asp173Glu | |
| NM_001142459.1:c.519C>A | NP_001135931.2:p.Asp173Glu | |
| NM_001142460.1:c.519C>A | NP_001135932.2:p.Asp173Glu | |
| NM_080871.3:c.474C>A | NP_543147.2:p.Asp158Glu | |
| XM_005249949.3:c.654C>A | XP_005250006.1:p.Asp218Glu | |
| NM_001142459.2:c.519C>A MANE Select | NP_001135931.2:p.Asp173Glu | |
| NM_080871.4:c.474C>A | NP_543147.2:p.Asp158Glu |