Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94421929C>T , CM000669.2:g.94421929C>T | GRCh38 |
| NC_000007.13:g.94051241C>T , CM000669.1:g.94051241C>T | GRCh37 |
| NC_000007.12:g.93889177C>T | NCBI36 |
| NG_007405.1:g.32369C>T , LRG_2:g.32369C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2380C>T MANE Select | NP_000080.2:p.Arg794Trp |
| ENST00000297268.11:c.2380C>T MANE Select | ENSP00000297268.6:p.Arg794Trp |
| NM_000089.3:c.2380C>T , LRG_2t1:c.2380C>T | NP_000080.2:p.Arg794Trp |
| ENST00000297268.10:c.2380C>T | ENSP00000297268.6:p.Arg794Trp |
| ENST00000473573.5:n.717C>T | |
| ENST00000497316.5:n.777C>T | |
| ENST00000620463.1:c.2374C>T | ENSP00000477719.1:p.Arg792Trp |