Linked Data
ClinVar Variation Id:
7508
ClinVar RCV Id:
RCV000007937
dbSNP Id:
rs121912642
ExAC:
1:180235528 C / T
gnomAD v2:
1-180235528-C-T
gnomAD v3:
1-180266393-C-T
gnomAD v4:
1-180266393-C-T
PubMed:
PMID:18073311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180266393C>T , CM000663.2:g.180266393C>T | GRCh38 |
| NC_000001.10:g.180235528C>T , CM000663.1:g.180235528C>T | GRCh37 |
| NC_000001.9:g.178502151C>T | NCBI36 |
| NG_008081.1:g.41087C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263726.4:c.250C>T MANE Select | ENSP00000263726.2:p.Arg84Cys | |
| ENST00000263726.3:c.250C>T | ENSP00000263726.2:p.Arg84Cys | |
| ENST00000561113.1:c.187C>T | ||
| NM_033343.3:c.250C>T | NP_203129.1:p.Arg84Cys | |
| XM_011510105.1:c.67C>T | XP_011508407.1:p.Arg23Cys | |
| XM_011510106.1:c.67C>T | XP_011508408.1:p.Arg23Cys | |
| XM_011510107.1:c.25C>T | XP_011508409.1:p.Arg9Cys | |
| XM_011510108.1:c.25C>T | XP_011508410.1:p.Arg9Cys | |
| XM_011510105.2:c.67C>T | XP_011508407.1:p.Arg23Cys | |
| XM_011510106.3:c.67C>T | XP_011508408.1:p.Arg23Cys | |
| XM_011510108.2:c.25C>T | XP_011508410.1:p.Arg9Cys | |
| XM_017002755.1:c.25C>T | XP_016858244.1:p.Arg9Cys | |
| NM_033343.4:c.250C>T MANE Select | NP_203129.1:p.Arg84Cys |