Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431135C>T , CM000663.2:g.68431135C>T | GRCh38 |
| NC_000001.10:g.68896818C>T , CM000663.1:g.68896818C>T | GRCh37 |
| NC_000001.9:g.68669406C>T | NCBI36 |
| NG_008472.1:g.23825G>A | |
| NG_008472.2:g.23825G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1380G>A MANE Select | ENSP00000262340.5:p.Trp460Ter | |
| ENST00000262340.5:c.1380G>A | ENSP00000262340.5:p.Trp460Ter | |
| NM_000329.2:c.1380G>A | NP_000320.1:p.Trp460Ter | |
| XM_017002027.1:c.1104G>A | XP_016857516.1:p.Trp368Ter | |
| NM_000329.3:c.1380G>A MANE Select | NP_000320.1:p.Trp460Ter |