Linked Data
ClinVar Variation Id:
43606
dbSNP Id:
rs148714837
ExAC:
7:81358953 C / T
gnomAD v2:
7-81358953-C-T
gnomAD v3:
7-81729637-C-T
gnomAD v4:
7-81729637-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81729637C>T , CM000669.2:g.81729637C>T | GRCh38 |
| NC_000007.13:g.81358953C>T , CM000669.1:g.81358953C>T | GRCh37 |
| NC_000007.12:g.81196889C>T | NCBI36 |
| NG_016274.1:g.45500G>A | |
| NG_016274.2:g.45500G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222390.11:c.1008G>A MANE Select | ENSP00000222390.5:p.Glu336= | |
| ENST00000457544.7:c.993G>A | ENSP00000391238.2:p.Glu331= | |
| ENST00000222390.9:c.1008G>A | ENSP00000222390.5:p.Glu336= | |
| ENST00000457544.6:c.993G>A | ENSP00000391238.2:p.Glu331= | |
| NM_000601.4:c.1008G>A | NP_000592.3:p.Glu336= | |
| NM_001010932.1:c.993G>A | NP_001010932.1:p.Glu331= | |
| XM_006715956.2:c.1008G>A | XP_006716019.1:p.Glu336= | |
| XM_011516115.1:c.993G>A | XP_011514417.1:p.Glu331= | |
| NM_000601.5:c.1008G>A | NP_000592.3:p.Glu336= | |
| NM_001010932.2:c.993G>A | NP_001010932.1:p.Glu331= | |
| XM_011516115.2:c.993G>A | XP_011514417.1:p.Glu331= | |
| NM_000601.6:c.1008G>A MANE Select | NP_000592.3:p.Glu336= | |
| NM_001010932.3:c.993G>A | NP_001010932.1:p.Glu331= |