Linked Data
ClinVar Variation Id:
18337
dbSNP Id:
rs121912670
ExAC:
2:233407702 C / T
gnomAD v2:
2-233407702-C-T
gnomAD v3:
2-232542992-C-T
gnomAD v4:
2-232542992-C-T
PubMed:
PMID:16826520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232542992C>T , CM000664.2:g.232542992C>T | GRCh38 |
| NC_000002.11:g.233407702C>T , CM000664.1:g.233407702C>T | GRCh37 |
| NC_000002.10:g.233115946C>T | NCBI36 |
| NG_012954.1:g.8266C>T | |
| NG_012954.2:g.8301C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651502.1:c.715C>T MANE Select | ENSP00000498757.1:p.Arg239Cys | |
| ENST00000389492.3:c.559C>T | ENSP00000374143.3:p.Arg187Cys | |
| ENST00000389494.7:c.715C>T | ENSP00000374145.3:p.Arg239Cys | |
| NM_005199.4:c.715C>T | NP_005190.4:p.Arg239Cys | |
| NM_005199.5:c.715C>T MANE Select | NP_005190.4:p.Arg239Cys |