Linked Data
ClinVar Variation Id:
17392
ClinVar RCV Id:
RCV000018934
dbSNP Id:
rs121912890
PubMed:
PMID:15316962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47974092G>T , CM000674.2:g.47974092G>T | GRCh38 |
| NC_000012.11:g.48367875G>T , CM000674.1:g.48367875G>T | GRCh37 |
| NC_000012.10:g.46654142G>T | NCBI36 |
| NG_008072.1:g.35411C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337299.7:c.4107C>A | ENSP00000338213.6:p.Cys1369Ter | |
| ENST00000380518.8:c.4314C>A MANE Select | ENSP00000369889.3:p.Cys1438Ter | |
| ENST00000337299.6:c.4107C>A | ENSP00000338213.6:p.Cys1369Ter | |
| ENST00000380518.7:c.4314C>A | ENSP00000369889.3:p.Cys1438Ter | |
| ENST00000493991.5:n.3400C>A | ||
| NM_001844.4:c.4314C>A | NP_001835.3:p.Cys1438Ter | |
| NM_033150.2:c.4107C>A | NP_149162.2:p.Cys1369Ter | |
| XM_006719242.2:c.4458C>A | XP_006719305.2:p.Cys1486Ter | |
| XM_011537928.1:c.4458C>A | XP_011536230.1:p.Cys1486Ter | |
| XM_011537929.1:c.4458C>A | XP_011536231.1:p.Cys1486Ter | |
| XM_011537930.1:c.4458C>A | XP_011536232.1:p.Cys1486Ter | |
| XM_011537931.1:c.4458C>A | XP_011536233.1:p.Cys1486Ter | |
| XM_011537932.1:c.4458C>A | XP_011536234.1:p.Cys1486Ter | |
| XM_011537933.1:c.4458C>A | XP_011536235.1:p.Cys1486Ter | |
| XM_011537934.1:c.4455C>A | XP_011536236.1:p.Cys1485Ter | |
| XM_011537935.1:c.3402C>A | XP_011536237.1:p.Cys1134Ter | |
| XM_017018828.1:c.4458C>A | XP_016874317.1:p.Cys1486Ter | |
| XM_017018829.1:c.4455C>A | XP_016874318.1:p.Cys1485Ter | |
| XM_017018830.1:c.4248C>A | XP_016874319.1:p.Cys1416Ter | |
| XM_017018831.2:c.3768C>A | XP_016874320.1:p.Cys1256Ter | |
| NM_001844.5:c.4314C>A MANE Select | NP_001835.3:p.Cys1438Ter | |
| NM_033150.3:c.4107C>A | NP_149162.2:p.Cys1369Ter |