Linked Data
ClinVar Variation Id:
6842
dbSNP Id:
rs121434440
ExAC:
1:231401101 C / T
gnomAD v2:
1-231401101-C-T
gnomAD v4:
1-231265355-C-T
PubMed:
PMID:9536089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265355C>T , CM000663.2:g.231265355C>T | GRCh38 |
| NC_000001.10:g.231401101C>T , CM000663.1:g.231401101C>T | GRCh37 |
| NC_000001.9:g.229467724C>T | NCBI36 |
| NG_008240.1:g.29183C>T | |
| NG_008240.2:g.29183C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366647.9:c.631C>T MANE Select | ENSP00000355607.4:p.Arg211Cys | |
| ENST00000644483.1:c.*317C>T | ENSP00000496537.1:n.*317C>T | |
| ENST00000366647.8:c.631C>T | ENSP00000355607.4:p.Arg211Cys | |
| ENST00000416000.1:c.601C>T | ENSP00000411640.1:p.Arg201Cys | |
| ENST00000436239.5:c.448C>T | ENSP00000402811.1:p.Arg150Cys | |
| NM_001316350.1:c.448C>T | NP_001303279.1:p.Arg150Cys | |
| NM_014236.3:c.631C>T | NP_055051.1:p.Arg211Cys | |
| XM_005273313.3:c.628C>T | XP_005273370.1:p.Arg210Cys | |
| XM_011544303.1:c.304C>T | XP_011542605.1:p.Arg102Cys | |
| XM_011544304.1:c.304C>T | XP_011542606.1:p.Arg102Cys | |
| XM_005273313.4:c.628C>T | XP_005273370.1:p.Arg210Cys | |
| XM_011544303.3:c.304C>T | XP_011542605.1:p.Arg102Cys | |
| XM_011544304.2:c.304C>T | XP_011542606.1:p.Arg102Cys | |
| NM_014236.4:c.631C>T MANE Select | NP_055051.1:p.Arg211Cys | |
| NM_001316350.2:c.448C>T | NP_001303279.1:p.Arg150Cys |