Linked Data
ClinVar Variation Id:
13204
dbSNP Id:
rs137853202
ExAC:
2:85890937 G / A
gnomAD v2:
2-85890937-G-A
gnomAD v3:
2-85663814-G-A
gnomAD v4:
2-85663814-G-A
PubMed:
PMID:7491219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85663814G>A , CM000664.2:g.85663814G>A | GRCh38 |
| NC_000002.11:g.85890937G>A , CM000664.1:g.85890937G>A | GRCh37 |
| NC_000002.10:g.85744448G>A | NCBI36 |
| NG_016967.1:g.9928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.706C>T | ENSP00000386346.2:p.Arg236Cys | |
| ENST00000519937.7:c.706C>T MANE Select | ENSP00000428719.2:p.Arg236Cys | |
| ENST00000393822.7:c.706C>T | ENSP00000377409.4:p.Arg236Cys | |
| ENST00000409383.5:c.742C>T | ENSP00000386346.1:p.Arg248Cys | |
| ENST00000428225.5:c.695C>T | ||
| ENST00000519937.6:c.706C>T | ENSP00000428719.2:p.Arg236Cys | |
| NM_000542.3:c.742C>T | NP_000533.3:p.Arg248Cys | |
| NM_198843.2:c.742C>T | NP_942140.2:p.Arg248Cys | |
| XM_005264487.2:c.742C>T | XP_005264544.1:p.Arg248Cys | |
| XM_005264488.2:c.706C>T | XP_005264545.2:p.Arg236Cys | |
| XM_005264490.3:c.706C>T | XP_005264547.2:p.Arg236Cys | |
| XM_005264488.4:c.706C>T | XP_005264545.2:p.Arg236Cys | |
| XM_005264490.4:c.706C>T | XP_005264547.2:p.Arg236Cys | |
| NM_000542.4:c.706C>T | NP_000533.4:p.Arg236Cys | |
| NM_001367281.1:c.706C>T | NP_001354210.1:p.Arg236Cys | |
| NM_198843.3:c.706C>T | NP_942140.3:p.Arg236Cys | |
| NM_000542.5:c.706C>T MANE Select | NP_000533.4:p.Arg236Cys |