Linked Data
dbSNP Id:
rs549654942
ExAC:
7:81358955 C / T
gnomAD v2:
7-81358955-C-T
gnomAD v3:
7-81729639-C-T
gnomAD v4:
7-81729639-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81729639C>T , CM000669.2:g.81729639C>T | GRCh38 |
| NC_000007.13:g.81358955C>T , CM000669.1:g.81358955C>T | GRCh37 |
| NC_000007.12:g.81196891C>T | NCBI36 |
| NG_016274.1:g.45498G>A | |
| NG_016274.2:g.45498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.1006G>A MANE Select | ENSP00000222390.5:p.Glu336Lys | |
| ENST00000457544.7:c.991G>A | ENSP00000391238.2:p.Glu331Lys | |
| ENST00000222390.9:c.1006G>A | ENSP00000222390.5:p.Glu336Lys | |
| ENST00000457544.6:c.991G>A | ENSP00000391238.2:p.Glu331Lys | |
| NM_000601.4:c.1006G>A | NP_000592.3:p.Glu336Lys | |
| NM_001010932.1:c.991G>A | NP_001010932.1:p.Glu331Lys | |
| XM_006715956.2:c.1006G>A | XP_006716019.1:p.Glu336Lys | |
| XM_011516115.1:c.991G>A | XP_011514417.1:p.Glu331Lys | |
| NM_000601.5:c.1006G>A | NP_000592.3:p.Glu336Lys | |
| NM_001010932.2:c.991G>A | NP_001010932.1:p.Glu331Lys | |
| XM_011516115.2:c.991G>A | XP_011514417.1:p.Glu331Lys | |
| NM_000601.6:c.1006G>A MANE Select | NP_000592.3:p.Glu336Lys | |
| NM_001010932.3:c.991G>A | NP_001010932.1:p.Glu331Lys |