Linked Data
ClinVar Variation Id:
1313905
ClinVar RCV Id:
RCV001771136
dbSNP Id:
rs1002714490
gnomAD v3:
11-68033239-C-T
gnomAD v4:
11-68033239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033239C>T , CM000673.2:g.68033239C>T | GRCh38 |
| NC_000011.9:g.67800706C>T , CM000673.1:g.67800706C>T | GRCh37 |
| NC_000011.8:g.67557282C>T | NCBI36 |
| NG_017040.1:g.7623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.328C>T MANE Select | ENSP00000315774.5:p.Arg110Cys | |
| ENST00000313468.9:c.328C>T | ENSP00000315774.5:p.Arg110Cys | |
| ENST00000432321.6:n.445C>T | ||
| ENST00000453471.6:c.328C>T | ENSP00000403972.2:p.Arg110Cys | |
| ENST00000524810.5:c.99C>T | ||
| ENST00000525419.5:c.274C>T | ENSP00000433521.1:p.Arg92Cys | |
| ENST00000525628.1:c.328C>T | ENSP00000432968.1:p.Arg110Cys | |
| ENST00000526339.5:c.328C>T | ENSP00000436287.1:p.Arg110Cys | |
| ENST00000526446.5:c.*383C>T | ENSP00000433645.1:n.*383C>T | |
| ENST00000528492.1:c.-67+2506C>T | ENSP00000432848.1:n.-67+2506C>T | |
| ENST00000529645.1:c.506C>T | ENSP00000431293.1:n.506C>T | |
| ENST00000532399.1:n.1033C>T | ||
| NM_002496.3:c.328C>T | NP_002487.1:p.Arg110Cys | |
| XM_005274013.1:c.328C>T | XP_005274070.1:p.Arg110Cys | |
| XM_005274014.1:c.328C>T | XP_005274071.1:p.Arg110Cys | |
| XM_005274015.1:c.208C>T | XP_005274072.1:p.Arg70Cys | |
| XM_011545053.1:c.328C>T | XP_011543355.1:p.Arg110Cys | |
| NM_002496.4:c.328C>T MANE Select | NP_002487.1:p.Arg110Cys |