Linked Data
ClinVar Variation Id:
890571
dbSNP Id:
rs139366493
ExAC:
19:12758346 C / T
gnomAD v2:
19-12758346-C-T
gnomAD v3:
19-12647532-C-T
gnomAD v4:
19-12647532-C-T
COSMIC:
COSM261899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647532C>T , CM000681.2:g.12647532C>T | GRCh38 |
| NC_000019.9:g.12758346C>T , CM000681.1:g.12758346C>T | GRCh37 |
| NC_000019.8:g.12619346C>T | NCBI36 |
| NG_008318.1:g.24246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2731G>A MANE Select | ENSP00000395473.2:p.Glu911Lys | |
| ENST00000221363.8:c.2728G>A | ENSP00000221363.4:p.Glu910Lys | |
| ENST00000456935.6:c.2731G>A | ENSP00000395473.2:p.Glu911Lys | |
| ENST00000466794.5:n.3321G>A | ||
| ENST00000469423.1:n.53G>A | ||
| ENST00000493218.5:n.142G>A | ||
| ENST00000597692.1:c.290G>A | ||
| NM_000528.3:c.2731G>A | NP_000519.2:p.Glu911Lys | |
| NM_001173498.1:c.2728G>A | NP_001166969.1:p.Glu910Lys | |
| XM_005259913.1:c.2734G>A | XP_005259970.1:p.Glu912Lys | |
| XM_011528017.1:c.1630G>A | XP_011526319.1:p.Glu544Lys | |
| XM_005259913.2:c.2734G>A | XP_005259970.1:p.Glu912Lys | |
| XM_024451518.1:c.1630G>A | XP_024307286.1:p.Glu544Lys | |
| NM_000528.4:c.2731G>A MANE Select | NP_000519.2:p.Glu911Lys | |
| NM_001173498.2:c.2728G>A | NP_001166969.1:p.Glu910Lys |