Linked Data
ClinVar Variation Id:
748691
ClinVar RCV Id:
RCV000925507
dbSNP Id:
rs148098479
ExAC:
7:81335698 G / A
gnomAD v2:
7-81335698-G-A
gnomAD v3:
7-81706382-G-A
gnomAD v4:
7-81706382-G-A
COSMIC:
COSM4416042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81706382G>A , CM000669.2:g.81706382G>A | GRCh38 |
| NC_000007.13:g.81335698G>A , CM000669.1:g.81335698G>A | GRCh37 |
| NC_000007.12:g.81173634G>A | NCBI36 |
| NG_016274.1:g.68755C>T | |
| NG_016274.2:g.68755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.1662C>T MANE Select | ENSP00000222390.5:p.His554= | |
| ENST00000457544.7:c.1647C>T | ENSP00000391238.2:p.His549= | |
| ENST00000222390.9:c.1662C>T | ENSP00000222390.5:p.His554= | |
| ENST00000457544.6:c.1647C>T | ENSP00000391238.2:p.His549= | |
| NM_000601.4:c.1662C>T | NP_000592.3:p.His554= | |
| NM_001010932.1:c.1647C>T | NP_001010932.1:p.His549= | |
| XM_006715956.2:c.1662C>T | XP_006716019.1:p.His554= | |
| XM_011516115.1:c.1647C>T | XP_011514417.1:p.His549= | |
| NM_000601.5:c.1662C>T | NP_000592.3:p.His554= | |
| NM_001010932.2:c.1647C>T | NP_001010932.1:p.His549= | |
| XM_011516115.2:c.1647C>T | XP_011514417.1:p.His549= | |
| NM_000601.6:c.1662C>T MANE Select | NP_000592.3:p.His554= | |
| NM_001010932.3:c.1647C>T | NP_001010932.1:p.His549= |