Linked Data
dbSNP Id:
rs112471026
ExAC:
17:76219646 C / T
gnomAD v2:
17-76219646-C-T
gnomAD v3:
17-78223565-C-T
gnomAD v4:
17-78223565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223565C>T , CM000679.2:g.78223565C>T | GRCh38 |
| NC_000017.10:g.76219646C>T , CM000679.1:g.76219646C>T | GRCh37 |
| NC_000017.9:g.73731241C>T | NCBI36 |
| NG_029069.1:g.14370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*11C>T MANE Select | ENSP00000324180.4:n.*11C>T | |
| ENST00000301633.8:c.*11C>T | ENSP00000301633.3:n.*11C>T | |
| ENST00000350051.7:c.*11C>T | ENSP00000324180.4:n.*11C>T | |
| ENST00000374948.6:c.322C>T | ENSP00000364086.1:p.Arg108Trp | |
| ENST00000589892.1:n.456C>T | ||
| NM_001012270.1:c.322C>T | NP_001012270.1:p.Arg108Trp | |
| NM_001012271.1:c.*11C>T | NP_001012271.1:n.*11C>T | |
| NM_001168.2:c.*11C>T | NP_001159.2:n.*11C>T | |
| XR_243654.3:n.642C>T | ||
| XR_934452.1:n.711C>T | ||
| XR_243654.5:n.642C>T | ||
| XR_934452.3:n.711C>T | ||
| NM_001168.3:c.*11C>T MANE Select | NP_001159.2:n.*11C>T | |
| NM_001012270.2:c.322C>T | NP_001012270.1:p.Arg108Trp | |
| NM_001012271.2:c.*11C>T | NP_001012271.1:n.*11C>T |