Linked Data
ClinVar Variation Id:
218886
ClinVar RCV Id:
RCV000203224
dbSNP Id:
rs864309652
PubMed:
PMID:26365341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57204779G>T , CM000678.2:g.57204779G>T | GRCh38 |
| NC_000016.9:g.57238691G>T , CM000678.1:g.57238691G>T | GRCh37 |
| NC_000016.8:g.55796192G>T | NCBI36 |
| NG_046342.1:g.23496G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394420.9:c.121G>T MANE Select | ENSP00000377942.4:p.Gly41Cys | |
| ENST00000394420.8:c.121G>T | ENSP00000377942.4:p.Gly41Cys | |
| ENST00000537866.5:c.121G>T | ENSP00000443176.1:p.Gly41Cys | |
| ENST00000561641.1:c.121G>T | ENSP00000455367.1:p.Gly41Cys | |
| ENST00000562439.5:c.121G>T | ENSP00000457705.1:p.Gly41Cys | |
| ENST00000562959.1:c.-115-2814G>T | ENSP00000455768.1:n.-115-2814G>T | |
| ENST00000564435.5:c.121G>T | ENSP00000456646.1:p.Gly41Cys | |
| ENST00000566352.1:n.751G>T | ||
| ENST00000568505.6:c.121G>T | ENSP00000455891.2:p.Gly41Cys | |
| NM_001305163.1:c.121G>T | NP_001292092.1:p.Gly41Cys | |
| NM_001305164.1:c.121G>T | NP_001292093.1:p.Gly41Cys | |
| NM_001305182.1:c.121G>T | NP_001292111.1:p.Gly41Cys | |
| NM_133368.1:c.121G>T | NP_588609.1:p.Gly41Cys | |
| NM_133368.2:c.121G>T | NP_588609.1:p.Gly41Cys | |
| XM_005256220.1:c.121G>T | XP_005256277.1:p.Gly41Cys | |
| XM_011523427.1:c.121G>T | XP_011521729.1:p.Gly41Cys | |
| XM_011523428.1:c.121G>T | XP_011521730.1:p.Gly41Cys | |
| XM_011523429.1:c.121G>T | XP_011521731.1:p.Gly41Cys | |
| XM_011523430.1:c.121G>T | XP_011521732.1:p.Gly41Cys | |
| XM_005256220.2:c.121G>T | XP_005256277.1:p.Gly41Cys | |
| XM_011523427.2:c.121G>T | XP_011521729.1:p.Gly41Cys | |
| XM_011523428.2:c.121G>T | XP_011521730.1:p.Gly41Cys | |
| XM_017023844.2:c.-718G>T | XP_016879333.1:n.-718G>T | |
| XM_024450482.1:c.121G>T | XP_024306250.1:p.Gly41Cys | |
| XM_024450483.1:c.121G>T | XP_024306251.1:p.Gly41Cys | |
| XM_024450484.1:c.121G>T | XP_024306252.1:p.Gly41Cys | |
| NM_133368.3:c.121G>T MANE Select | NP_588609.1:p.Gly41Cys | |
| NM_001305163.2:c.121G>T | NP_001292092.1:p.Gly41Cys | |
| NM_001305164.2:c.121G>T | NP_001292093.1:p.Gly41Cys | |
| NM_001305182.2:c.121G>T | NP_001292111.1:p.Gly41Cys |