Linked Data
dbSNP Id:
rs782396665
ExAC:
3:50293688 C / T
gnomAD v2:
3-50293688-C-T
gnomAD v4:
3-50256256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50256256C>T , CM000665.2:g.50256256C>T | GRCh38 |
| NC_000003.11:g.50293688C>T , CM000665.1:g.50293688C>T | GRCh37 |
| NC_000003.10:g.50268692C>T | NCBI36 |
| NG_016002.2:g.34569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313601.11:c.529C>T MANE Select | ENSP00000312999.6:p.Arg177Trp | |
| ENST00000266027.9:c.373C>T | ENSP00000266027.6:p.Arg125Trp | |
| ENST00000313601.10:c.529C>T | ENSP00000312999.6:p.Arg177Trp | |
| ENST00000422163.5:c.481C>T | ENSP00000406871.1:p.Arg161Trp | |
| ENST00000440628.5:c.373C>T | ENSP00000395736.1:p.Arg125Trp | |
| ENST00000441156.5:c.*57C>T | ENSP00000394321.1:n.*57C>T | |
| ENST00000446079.5:c.*164C>T | ENSP00000406065.1:n.*164C>T | |
| ENST00000451956.1:c.418C>T | ENSP00000406369.1:p.Arg140Trp | |
| ENST00000468422.1:n.96C>T | ||
| ENST00000490122.5:n.1356C>T | ||
| ENST00000491100.5:n.2345C>T | ||
| NM_001166425.1:c.418C>T | NP_001159897.1:p.Arg140Trp | |
| NM_001282617.1:c.373C>T | NP_001269546.1:p.Arg125Trp | |
| NM_001282618.1:c.286C>T | NP_001269547.1:p.Arg96Trp | |
| NM_001282619.1:c.481C>T | NP_001269548.1:p.Arg161Trp | |
| NM_001282620.1:c.481C>T | NP_001269549.1:p.Arg161Trp | |
| NM_002070.3:c.529C>T | NP_002061.1:p.Arg177Trp | |
| NM_002070.4:c.529C>T MANE Select | NP_002061.1:p.Arg177Trp | |
| NM_001166425.2:c.418C>T | NP_001159897.1:p.Arg140Trp | |
| NM_001282618.2:c.286C>T | NP_001269547.1:p.Arg96Trp | |
| NM_001282619.2:c.481C>T | NP_001269548.1:p.Arg161Trp | |
| NM_001282620.2:c.481C>T | NP_001269549.1:p.Arg161Trp | |
| NM_001282617.2:c.373C>T | NP_001269546.1:p.Arg125Trp |