ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024015C>T , CM000663.2:g.17024015C>T | GRCh38 |
| NC_000001.10:g.17350510C>T , CM000663.1:g.17350510C>T | GRCh37 |
| NC_000001.9:g.17223097C>T | NCBI36 |
| NG_012340.1:g.35156G>A , LRG_316:g.35156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.429G>A | ENSP00000481376.2:p.Trp143Ter | |
| ENST00000491274.6:c.558G>A | ENSP00000480482.2:p.Trp186Ter | |
| ENST00000375499.8:c.600G>A MANE Select | ENSP00000364649.3:p.Trp200Ter | |
| ENST00000375499.7:c.600G>A | ENSP00000364649.3:p.Trp200Ter | |
| ENST00000485515.5:n.534G>A | ||
| ENST00000491274.5:c.558G>A | ENSP00000480482.1:p.Trp186Ter | |
| NM_003000.2:c.600G>A , LRG_316t1:c.600G>A | NP_002991.2:p.Trp200Ter | |
| NM_003000.3:c.600G>A MANE Select | NP_002991.2:p.Trp200Ter |