Linked Data
ClinVar Variation Id:
316009
dbSNP Id:
rs114354377
ExAC:
15:43495325 G / T
gnomAD v2:
15-43495325-G-T
gnomAD v3:
15-43203127-G-T
gnomAD v4:
15-43203127-G-T
COSMIC:
COSM3667722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43203127G>T , CM000677.2:g.43203127G>T | GRCh38 |
| NC_000015.9:g.43495325G>T , CM000677.1:g.43495325G>T | GRCh37 |
| NC_000015.8:g.41282617G>T | NCBI36 |
| NG_011505.1:g.22999C>A | |
| NG_011505.2:g.27730C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.1767C>A MANE Select | ENSP00000396616.2:p.His589Gln | |
| ENST00000567019.2:n.1273C>A | ||
| ENST00000648595.1:c.1857C>A | ENSP00000497777.1:p.His619Gln | |
| ENST00000300215.7:c.1857C>A | ENSP00000300215.3:p.His619Gln | |
| ENST00000441366.6:c.1767C>A | ENSP00000396616.2:p.His589Gln | |
| ENST00000540029.5:c.1533C>A | ENSP00000444699.1:p.His511Gln | |
| ENST00000563128.5:n.301C>A | ||
| ENST00000567019.1:n.1282C>A | ||
| ENST00000568508.5:c.1478-1150C>A | ENSP00000457140.1:n.1478-1150C>A | |
| ENST00000622454.4:c.1551C>A | ENSP00000481226.1:p.His517Gln | |
| NM_000119.2:c.1857C>A | NP_000110.2:p.His619Gln | |
| NM_001114134.1:c.1767C>A | NP_001107606.1:p.His589Gln | |
| XM_005254225.1:c.1662C>A | XP_005254282.1:p.His554Gln | |
| XM_011521349.1:c.1857C>A | XP_011519651.1:p.His619Gln | |
| XM_011521350.1:c.1857C>A | XP_011519652.1:p.His619Gln | |
| XM_011521351.1:c.1857C>A | XP_011519653.1:p.His619Gln | |
| XM_011521352.1:c.1821C>A | XP_011519654.1:p.His607Gln | |
| XM_011521353.1:c.1752C>A | XP_011519655.1:p.His584Gln | |
| XM_011521354.1:c.1302C>A | XP_011519656.1:p.His434Gln | |
| NM_000119.3:c.1857C>A | NP_000110.2:p.His619Gln | |
| XM_011521349.2:c.1857C>A | XP_011519651.1:p.His619Gln | |
| XM_011521350.2:c.1857C>A | XP_011519652.1:p.His619Gln | |
| XM_011521351.2:c.1857C>A | XP_011519653.1:p.His619Gln | |
| XM_011521352.2:c.1821C>A | XP_011519654.1:p.His607Gln | |
| XM_011521353.2:c.1752C>A | XP_011519655.1:p.His584Gln | |
| XM_011521354.2:c.1302C>A | XP_011519656.1:p.His434Gln | |
| NM_001114134.2:c.1767C>A MANE Select | NP_001107606.1:p.His589Gln |