Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82082118G>A , CM000679.2:g.82082118G>A | GRCh38 |
| NC_000017.10:g.80039994G>A , CM000679.1:g.80039994G>A | GRCh37 |
| NC_000017.9:g.77633283G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004104.5:c.6054C>T MANE Select | NP_004095.4:p.Val2018= |
| ENST00000306749.4:c.6054C>T MANE Select | ENSP00000304592.2:p.Val2018= |
| NM_004104.4:c.6054C>T | NP_004095.4:p.Val2018= |
| ENST00000306749.3:c.6054C>T | ENSP00000304592.2:p.Val2018= |
| ENST00000634990.1:c.6048C>T | ENSP00000488964.1:p.Val2016= |
| XM_011523538.1:c.6054C>T | XP_011521840.1:p.Val2018= |
| XM_011523538.2:c.6054C>T | XP_011521840.1:p.Val2018= |