ClinVar Variation:
COSMIC:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197096082C>T , CM000663.2:g.197096082C>T | GRCh38 |
| NC_000001.10:g.197065212C>T , CM000663.1:g.197065212C>T | GRCh37 |
| NC_000001.9:g.195331835C>T | NCBI36 |
| NG_015867.1:g.55613G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2190G>A | ||
| ENST00000367409.9:c.8903G>A MANE Select | ENSP00000356379.4:p.Trp2968Ter | |
| ENST00000680265.1:c.9125G>A | ENSP00000505384.1:p.Trp3042Ter | |
| ENST00000680710.1:c.8903G>A | ENSP00000506676.1:p.Trp2968Ter | |
| ENST00000294732.11:c.4148G>A | ENSP00000294732.7:p.Trp1383Ter | |
| ENST00000367408.5:c.1898G>A | ENSP00000356378.1:p.Trp633Ter | |
| ENST00000367409.8:c.8903G>A | ENSP00000356379.4:p.Trp2968Ter | |
| ENST00000612785.1:c.2861G>A | ENSP00000479244.1:p.Trp954Ter | |
| NM_001206846.1:c.4148G>A | NP_001193775.1:p.Trp1383Ter | |
| NM_018136.4:c.8903G>A | NP_060606.3:p.Trp2968Ter | |
| NM_018136.5:c.8903G>A MANE Select | NP_060606.3:p.Trp2968Ter | |
| NM_001206846.2:c.4148G>A | NP_001193775.1:p.Trp1383Ter |