Linked Data
ClinVar Variation Id:
158081
ClinVar RCV Id:
RCV000145410
dbSNP Id:
rs606231300
gnomAD v4:
1-112917820-G-A
PubMed:
PMID:25390740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112917820G>A , CM000663.2:g.112917820G>A | GRCh38 |
| NC_000001.10:g.113460442G>A , CM000663.1:g.113460442G>A | GRCh37 |
| NC_000001.9:g.113261965G>A | NCBI36 |
| NG_015880.2:g.43109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.586C>T MANE Select | ENSP00000358640.4:p.Arg196Ter | |
| ENST00000429288.2:c.586C>T | ENSP00000397106.2:p.Arg196Ter | |
| ENST00000443580.6:c.586C>T | ENSP00000399104.2:p.Arg196Ter | |
| ENST00000458229.6:c.586C>T | ENSP00000416167.2:p.Arg196Ter | |
| ENST00000679803.1:c.586C>T | ENSP00000505879.1:p.Arg196Ter | |
| ENST00000679846.1:n.1503C>T | ||
| ENST00000369626.7:c.586C>T | ENSP00000358640.3:p.Arg196Ter | |
| ENST00000429288.1:c.586C>T | ENSP00000397106.1:p.Arg196Ter | |
| ENST00000443580.5:c.586C>T | ENSP00000399104.1:p.Arg196Ter | |
| ENST00000458229.5:c.586C>T | ENSP00000416167.1:p.Arg196Ter | |
| ENST00000538576.5:c.586C>T | ENSP00000441065.1:p.Arg196Ter | |
| NM_001166496.1:c.586C>T | NP_001159968.1:p.Arg196Ter | |
| NM_003051.3:c.586C>T | NP_003042.3:p.Arg196Ter | |
| XM_011542026.1:c.586C>T | XP_011540328.1:p.Arg196Ter | |
| XM_011542027.1:c.586C>T | XP_011540329.1:p.Arg196Ter | |
| NM_003051.4:c.586C>T MANE Select | NP_003042.3:p.Arg196Ter | |
| NM_001166496.2:c.586C>T | NP_001159968.1:p.Arg196Ter |