Linked Data
ClinVar Variation Id:
218152
dbSNP Id:
rs878853281
gnomAD v2:
9-111903640-C-T
gnomAD v4:
9-109141360-C-T
PubMed:
PMID:27236917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109141360C>T , CM000671.2:g.109141360C>T | GRCh38 |
| NC_000009.11:g.111903640C>T , CM000671.1:g.111903640C>T | GRCh37 |
| NC_000009.10:g.110943461C>T | NCBI36 |
| NG_051235.1:g.30932G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561981.5:c.692G>A MANE Select | ENSP00000477141.2:p.Trp231Ter | |
| ENST00000642157.1:n.2927G>A | ||
| ENST00000644736.1:c.689G>A | ||
| ENST00000644747.1:c.472G>A | ENSP00000493964.1:n.472G>A | |
| ENST00000645180.1:n.1443G>A | ||
| ENST00000561981.2:c.845G>A | ENSP00000477141.1:p.Trp282Ter | |
| NM_014334.2:c.845G>A | NP_055149.2:p.Trp282Ter | |
| XM_011518453.1:c.497G>A | XP_011516755.1:p.Trp166Ter | |
| XM_011518454.1:c.497G>A | XP_011516756.1:p.Trp166Ter | |
| NM_014334.3:c.845G>A | NP_055149.2:p.Trp282Ter | |
| XM_011518454.3:c.497G>A | XP_011516756.1:p.Trp166Ter | |
| NM_014334.4:c.692G>A MANE Select | NP_055149.3:p.Trp231Ter |