Linked Data
dbSNP Id:
rs763862595
ExAC:
7:92140260 G / T
gnomAD v2:
7-92140260-G-T
gnomAD v4:
7-92510946-G-T
COSMIC:
COSM747544
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92510946G>T , CM000669.2:g.92510946G>T | GRCh38 |
| NC_000007.13:g.92140260G>T , CM000669.1:g.92140260G>T | GRCh37 |
| NC_000007.12:g.91978196G>T | NCBI36 |
| NG_008341.1:g.22586C>A | |
| NG_008341.2:g.22586C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1585C>A MANE Select | ENSP00000248633.4:p.Gln529Lys | |
| ENST00000248633.8:c.1585C>A | ENSP00000248633.4:p.Gln529Lys | |
| ENST00000422866.1:c.486C>A | ||
| ENST00000428214.5:c.1585C>A | ENSP00000394413.1:p.Gln529Lys | |
| ENST00000438045.5:c.619C>A | ENSP00000410438.1:p.Gln207Lys | |
| ENST00000476923.1:n.346C>A | ||
| ENST00000484913.5:n.1624C>A | ||
| NM_000466.2:c.1585C>A | NP_000457.1:p.Gln529Lys | |
| NM_001282677.1:c.1585C>A | NP_001269606.1:p.Gln529Lys | |
| NM_001282678.1:c.961C>A | NP_001269607.1:p.Gln321Lys | |
| XM_005250433.3:c.-82C>A | XP_005250490.1:n.-82C>A | |
| XR_242246.3:n.1681C>A | ||
| XM_017012319.2:c.-82C>A | XP_016867808.1:n.-82C>A | |
| XR_001744808.2:n.695C>A | ||
| XR_242246.5:n.1632C>A | ||
| NM_000466.3:c.1585C>A MANE Select | NP_000457.1:p.Gln529Lys | |
| NM_001282677.2:c.1585C>A | NP_001269606.1:p.Gln529Lys | |
| NM_001282678.2:c.961C>A | NP_001269607.1:p.Gln321Lys |