Linked Data
ClinVar Variation Id:
5048
dbSNP Id:
rs754637718
ExAC:
12:53714349 C / T
gnomAD v2:
12-53714349-C-T
gnomAD v3:
12-53320565-C-T
gnomAD v4:
12-53320565-C-T
PubMed:
PMID:18628786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53320565C>T , CM000674.2:g.53320565C>T | GRCh38 |
| NC_000012.11:g.53714349C>T , CM000674.1:g.53714349C>T | GRCh37 |
| NC_000012.10:g.52000616C>T | NCBI36 |
| NG_016775.1:g.6064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.251G>A MANE Select | ENSP00000209873.4:p.Trp84Ter | |
| ENST00000546393.7:n.349G>A | ||
| ENST00000546562.6:n.268G>A | ||
| ENST00000547238.6:n.693G>A | ||
| ENST00000547520.6:n.185G>A | ||
| ENST00000547757.2:c.-602G>A | ENSP00000448020.2:n.-602G>A | |
| ENST00000548880.2:n.401G>A | ||
| ENST00000549450.6:n.185G>A | ||
| ENST00000552161.6:n.713G>A | ||
| ENST00000672797.1:n.704G>A | ||
| ENST00000209873.8:c.251G>A | ENSP00000209873.4:p.Trp84Ter | |
| ENST00000394384.7:c.251G>A | ENSP00000377908.3:p.Trp84Ter | |
| ENST00000546562.5:n.268G>A | ||
| ENST00000547238.5:n.644G>A | ||
| ENST00000547757.1:c.251G>A | ENSP00000448020.1:p.Trp84Ter | |
| ENST00000547761.6:n.235G>A | ||
| ENST00000548258.5:n.279G>A | ||
| ENST00000548880.1:n.346G>A | ||
| ENST00000549450.5:n.185G>A | ||
| ENST00000549821.5:n.249G>A | ||
| ENST00000549983.5:n.274G>A | ||
| ENST00000550286.5:c.-30G>A | ENSP00000446885.1:n.-30G>A | |
| ENST00000551724.5:n.301G>A | ||
| ENST00000552161.5:n.346G>A | ||
| ENST00000552876.5:n.693G>A | ||
| NM_001173466.1:c.251G>A | NP_001166937.1:p.Trp84Ter | |
| NM_015665.5:c.251G>A | NP_056480.1:p.Trp84Ter | |
| XM_006719617.2:c.266G>A | XP_006719680.1:p.Trp89Ter | |
| XM_006719619.2:c.266G>A | XP_006719682.1:p.Trp89Ter | |
| XM_011538777.1:c.266G>A | XP_011537079.1:p.Trp89Ter | |
| XM_011538778.1:c.251G>A | XP_011537080.1:p.Trp84Ter | |
| XM_011538779.1:c.266G>A | XP_011537081.1:p.Trp89Ter | |
| XM_011538780.1:c.251G>A | XP_011537082.1:p.Trp84Ter | |
| XM_011538778.2:c.251G>A | XP_011537080.1:p.Trp84Ter | |
| XM_011538780.2:c.251G>A | XP_011537082.1:p.Trp84Ter | |
| XR_001748875.2:n.371G>A | ||
| NM_015665.6:c.251G>A MANE Select | NP_056480.1:p.Trp84Ter | |
| NM_001173466.2:c.251G>A | NP_001166937.1:p.Trp84Ter |