Linked Data
ClinVar Variation Id:
65570
dbSNP Id:
rs439898
gnomAD v2:
1-155208421-G-A
gnomAD v3:
1-155238630-G-A
gnomAD v4:
1-155238630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238630G>A , CM000663.2:g.155238630G>A | GRCh38 |
| NC_000001.10:g.155208421G>A , CM000663.1:g.155208421G>A | GRCh37 |
| NC_000001.9:g.153475045G>A | NCBI36 |
| NG_009783.1:g.11068C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368373.8:c.475C>T MANE Select | ENSP00000357357.3:p.Arg159Trp | |
| ENST00000327247.9:c.475C>T | ENSP00000314508.5:p.Arg159Trp | |
| ENST00000368373.7:c.475C>T | ENSP00000357357.3:p.Arg159Trp | |
| ENST00000427500.7:c.328C>T | ENSP00000402577.2:p.Arg110Trp | |
| ENST00000428024.3:c.214C>T | ENSP00000397986.2:p.Arg72Trp | |
| ENST00000460156.1:n.262C>T | ||
| ENST00000473570.5:n.796C>T | ||
| ENST00000484489.5:n.339+1343C>T | ||
| ENST00000491081.5:n.80C>T | ||
| ENST00000493842.5:n.813C>T | ||
| ENST00000497670.5:n.98C>T | ||
| NM_000157.3:c.475C>T | NP_000148.2:p.Arg159Trp | |
| NM_001005741.2:c.475C>T | NP_001005741.1:p.Arg159Trp | |
| NM_001005742.2:c.475C>T | NP_001005742.1:p.Arg159Trp | |
| NM_001171811.1:c.214C>T | NP_001165282.1:p.Arg72Trp | |
| NM_001171812.1:c.328C>T | NP_001165283.1:p.Arg110Trp | |
| XM_006711270.1:c.475C>T | XP_006711333.1:p.Arg159Trp | |
| XM_011509407.1:c.475C>T | XP_011507709.1:p.Arg159Trp | |
| NM_000157.4:c.475C>T MANE Select | NP_000148.2:p.Arg159Trp | |
| NM_001005741.3:c.475C>T | NP_001005741.1:p.Arg159Trp | |
| NM_001005742.3:c.475C>T | NP_001005742.1:p.Arg159Trp | |
| NM_001171811.2:c.214C>T | NP_001165282.1:p.Arg72Trp | |
| NM_001171812.2:c.328C>T | NP_001165283.1:p.Arg110Trp |