Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.419053G>A , CM000681.2:g.419053G>A | GRCh38 |
| NC_000019.9:g.419053G>A , CM000681.1:g.419053G>A | GRCh37 |
| NC_000019.8:g.370053G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012435.3:c.1624C>T MANE Select | NP_036567.2:p.Arg542Trp |
| ENST00000264554.11:c.1624C>T MANE Select | ENSP00000264554.4:p.Arg542Trp |
| NM_001387056.1:c.1489C>T | NP_001373985.1:p.Arg497Trp |
| NM_012435.2:c.1624C>T | NP_036567.2:p.Arg542Trp |
| ENST00000264554.10:c.1624C>T | ENSP00000264554.4:p.Arg542Trp |
| ENST00000587423.5:n.827C>T | |
| ENST00000588376.5:n.687C>T | |
| ENST00000590170.3:c.563C>T | |
| XM_011527895.1:c.1489C>T | XP_011526197.1:p.Arg497Trp |
| XM_011527895.2:c.1489C>T | XP_011526197.1:p.Arg497Trp |