Linked Data
ClinVar Variation Id:
385026
dbSNP Id:
rs777147755
ExAC:
17:12896213 G / A
gnomAD v2:
17-12896213-G-A
gnomAD v3:
17-12992896-G-A
gnomAD v4:
17-12992896-G-A
COSMIC:
COSM302123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992896G>A , CM000679.2:g.12992896G>A | GRCh38 |
| NC_000017.10:g.12896213G>A , CM000679.1:g.12896213G>A | GRCh37 |
| NC_000017.9:g.12836938G>A | NCBI36 |
| NG_015808.1:g.30169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2403C>T MANE Select | ENSP00000337445.4:p.Gly801= | |
| ENST00000338034.8:c.2403C>T | ENSP00000337445.4:p.Gly801= | |
| ENST00000395962.6:c.2346C>T | ENSP00000379291.1:p.Gly782= | |
| ENST00000426905.7:c.2283C>T | ENSP00000405223.3:p.Gly761= | |
| ENST00000465825.5:n.2290C>T | ||
| ENST00000480891.5:n.2232C>T | ||
| ENST00000484122.5:n.3233C>T | ||
| ENST00000487229.6:n.1949C>T | ||
| ENST00000584650.5:c.1802C>T | ||
| NM_001165962.1:c.2283C>T | NP_001159434.1:p.Gly761= | |
| NM_018127.6:c.2403C>T | NP_060597.4:p.Gly801= | |
| NM_173717.1:c.2400C>T | NP_776065.1:p.Gly800= | |
| XM_024450850.1:c.2562C>T | XP_024306618.1:p.Gly854= | |
| XM_024450851.1:c.2484C>T | XP_024306619.1:p.Gly828= | |
| XM_024450852.1:c.2481C>T | XP_024306620.1:p.Gly827= | |
| XM_024450853.1:c.2478C>T | XP_024306621.1:p.Gly826= | |
| XM_024450854.1:c.2442C>T | XP_024306622.1:p.Gly814= | |
| XM_024450855.1:c.2361C>T | XP_024306623.1:p.Gly787= | |
| XM_024450856.1:c.2280C>T | XP_024306624.1:p.Gly760= | |
| XM_024450857.1:c.2280C>T | XP_024306625.1:p.Gly760= | |
| XM_024450858.1:c.2199C>T | XP_024306626.1:p.Gly733= | |
| XM_024450859.1:c.2196C>T | XP_024306627.1:p.Gly732= | |
| XM_024450860.1:c.2121C>T | XP_024306628.1:p.Gly707= | |
| XM_024450861.1:c.2121C>T | XP_024306629.1:p.Gly707= | |
| XM_024450862.1:c.2118C>T | XP_024306630.1:p.Gly706= | |
| NM_018127.7:c.2403C>T MANE Select | NP_060597.4:p.Gly801= | |
| NM_001165962.2:c.2283C>T | NP_001159434.1:p.Gly761= | |
| NM_173717.2:c.2400C>T | NP_776065.1:p.Gly800= |