Linked Data
ClinVar Variation Id:
13123
dbSNP Id:
rs121917741
ExAC:
1:204131245 G / A
gnomAD v2:
1-204131245-G-A
gnomAD v3:
1-204162117-G-A
gnomAD v4:
1-204162117-G-A
PubMed:
PMID:16116425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204162117G>A , CM000663.2:g.204162117G>A | GRCh38 |
| NC_000001.10:g.204131245G>A , CM000663.1:g.204131245G>A | GRCh37 |
| NC_000001.9:g.202397868G>A | NCBI36 |
| NG_012122.1:g.9221C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272190.9:c.145C>T MANE Select | ENSP00000272190.8:p.Arg49Ter | |
| ENST00000638118.1:c.31C>T | ENSP00000490307.1:p.Arg11Ter | |
| ENST00000272190.8:c.145C>T | ENSP00000272190.8:p.Arg49Ter | |
| NM_000537.3:c.145C>T | NP_000528.1:p.Arg49Ter | |
| NM_000537.4:c.145C>T MANE Select | NP_000528.1:p.Arg49Ter |