Linked Data
ClinVar Variation Id:
521929
ClinVar RCV Id:
RCV000622321
dbSNP Id:
rs1247427997
gnomAD v2:
1-165712481-G-A
gnomAD v4:
1-165743244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165743244G>A , CM000663.2:g.165743244G>A | GRCh38 |
| NC_000001.10:g.165712481G>A , CM000663.1:g.165712481G>A | GRCh37 |
| NC_000001.9:g.163979105G>A | NCBI36 |
| NG_032004.1:g.30679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367881.11:c.391C>T MANE Select | ENSP00000356856.6:p.Arg131Ter | |
| ENST00000465705.4:c.*222C>T | ENSP00000463105.2:n.*222C>T | |
| ENST00000476143.7:c.*181C>T | ENSP00000464127.2:n.*181C>T | |
| ENST00000367881.9:c.544C>T | ENSP00000356856.5:p.Arg182Ter | |
| ENST00000392129.10:c.391C>T | ENSP00000375975.5:p.Arg131Ter | |
| ENST00000464650.5:c.139C>T | ENSP00000463951.1:p.Arg47Ter | |
| ENST00000465705.3:c.*222C>T | ENSP00000463105.1:n.*222C>T | |
| ENST00000476143.6:c.468C>T | ||
| ENST00000481278.5:c.355C>T | ENSP00000462300.1:p.Arg119Ter | |
| ENST00000580248.5:c.139C>T | ENSP00000462588.1:p.Arg47Ter | |
| ENST00000612311.4:c.544C>T | ENSP00000480514.1:p.Arg182Ter | |
| NM_001256164.1:c.442C>T | NP_001243093.1:p.Arg148Ter | |
| NM_001256165.1:c.355C>T | NP_001243094.1:p.Arg119Ter | |
| NM_019026.4:c.544C>T | NP_061899.2:p.Arg182Ter | |
| NR_045818.1:n.485C>T | ||
| NM_001366129.1:c.391C>T | NP_001353058.1:p.Arg131Ter | |
| NM_019026.5:c.391C>T | NP_061899.3:p.Arg131Ter | |
| NM_019026.6:c.391C>T MANE Select | NP_061899.3:p.Arg131Ter |