Linked Data
ClinVar Variation Id:
133874
dbSNP Id:
rs587778185
ExAC:
12:58144864 G / A
gnomAD v2:
12-58144864-G-A
gnomAD v4:
12-57751081-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57751081G>A , CM000674.2:g.57751081G>A | GRCh38 |
| NC_000012.11:g.58144864G>A , CM000674.1:g.58144864G>A | GRCh37 |
| NC_000012.10:g.56431131G>A | NCBI36 |
| NG_007484.2:g.6301C>T , LRG_490:g.6301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.364C>T MANE Select | ENSP00000257904.5:p.Arg122Cys | |
| ENST00000257904.10:c.364C>T | ENSP00000257904.5:p.Arg122Cys | |
| ENST00000312990.10:c.264+216C>T | ENSP00000316889.6:n.264+216C>T | |
| ENST00000546489.5:c.142C>T | ENSP00000447779.1:p.Arg48Cys | |
| ENST00000547281.5:c.142C>T | ENSP00000447274.1:p.Arg48Cys | |
| ENST00000549606.5:c.-158+1094C>T | ENSP00000447005.1:n.-158+1094C>T | |
| ENST00000550419.5:c.364C>T | ENSP00000448098.1:p.Arg122Cys | |
| ENST00000551706.1:n.730C>T | ||
| ENST00000551800.5:c.142C>T | ENSP00000449391.1:p.Arg48Cys | |
| ENST00000551888.5:n.442+216C>T | ||
| ENST00000552254.5:c.364C>T | ENSP00000449179.1:p.Arg122Cys | |
| ENST00000552388.1:c.364C>T | ENSP00000448963.1:p.Arg122Cys | |
| ENST00000553237.5:c.*3C>T | ENSP00000448885.1:n.*3C>T | |
| NM_000075.3:c.364C>T | NP_000066.1:p.Arg122Cys | |
| NM_000075.4:c.364C>T MANE Select | NP_000066.1:p.Arg122Cys |