Linked Data
ClinVar Variation Id:
17402
ClinVar RCV Id:
RCV000018946
dbSNP Id:
rs121912898
gnomAD v4:
12-48000041-C-T
PubMed:
PMID:17721977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48000041C>T , CM000674.2:g.48000041C>T | GRCh38 |
| NC_000012.11:g.48393824C>T , CM000674.1:g.48393824C>T | GRCh37 |
| NC_000012.10:g.46680091C>T | NCBI36 |
| NG_008072.1:g.9462G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.86-1610G>A | ENSP00000338213.6:n.86-1610G>A | |
| ENST00000380518.8:c.170G>A MANE Select | ENSP00000369889.3:p.Cys57Tyr | |
| ENST00000490609.2:n.403G>A | ||
| ENST00000337299.6:c.86-1610G>A | ENSP00000338213.6:n.86-1610G>A | |
| ENST00000380518.7:c.170G>A | ENSP00000369889.3:p.Cys57Tyr | |
| ENST00000474996.6:n.408G>A | ||
| ENST00000490609.1:n.335G>A | ||
| NM_001844.4:c.170G>A | NP_001835.3:p.Cys57Tyr | |
| NM_033150.2:c.86-1610G>A | NP_149162.2:n.86-1610G>A | |
| XM_006719242.2:c.311G>A | XP_006719305.2:p.Cys104Tyr | |
| XM_011537928.1:c.311G>A | XP_011536230.1:p.Cys104Tyr | |
| XM_011537929.1:c.311G>A | XP_011536231.1:p.Cys104Tyr | |
| XM_011537930.1:c.311G>A | XP_011536232.1:p.Cys104Tyr | |
| XM_011537931.1:c.311G>A | XP_011536233.1:p.Cys104Tyr | |
| XM_011537932.1:c.311G>A | XP_011536234.1:p.Cys104Tyr | |
| XM_011537933.1:c.311G>A | XP_011536235.1:p.Cys104Tyr | |
| XM_011537934.1:c.311G>A | XP_011536236.1:p.Cys104Tyr | |
| XM_017018828.1:c.311G>A | XP_016874317.1:p.Cys104Tyr | |
| XM_017018829.1:c.311G>A | XP_016874318.1:p.Cys104Tyr | |
| XM_017018830.1:c.227-1610G>A | XP_016874319.1:n.227-1610G>A | |
| XM_017018831.2:c.-377G>A | XP_016874320.1:n.-377G>A | |
| NM_001844.5:c.170G>A MANE Select | NP_001835.3:p.Cys57Tyr | |
| NM_033150.3:c.86-1610G>A | NP_149162.2:n.86-1610G>A |