ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859587C>T , CM000665.2:g.48859587C>T | GRCh38 |
| NC_000003.11:g.48897020C>T , CM000665.1:g.48897020C>T | GRCh37 |
| NC_000003.10:g.48872024C>T | NCBI36 |
| NG_008171.1:g.44310G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.576G>A MANE Select | ENSP00000326305.4:p.Trp192Ter | |
| ENST00000319017.4:c.576G>A | ENSP00000326305.4:p.Trp192Ter | |
| ENST00000430379.5:c.357G>A | ENSP00000388986.1:p.Trp119Ter | |
| ENST00000440964.1:c.*406G>A | ENSP00000388563.1:n.*406G>A | |
| NM_000387.5:c.576G>A | NP_000378.1:p.Trp192Ter | |
| XM_006713327.1:c.536-1815G>A | XP_006713390.1:n.536-1815G>A | |
| NM_000387.6:c.576G>A MANE Select | NP_000378.1:p.Trp192Ter |