Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44827618G>A , CM000663.2:g.44827618G>A | GRCh38 |
| NC_000001.10:g.45293290G>A , CM000663.1:g.45293290G>A | GRCh37 |
| NC_000001.9:g.45065877G>A | NCBI36 |
| NG_013369.1:g.20327C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003738.5:c.2155C>T MANE Select | NP_003729.3:p.Arg719Trp |
| ENST00000372192.4:c.2155C>T MANE Select | ENSP00000361266.3:p.Arg719Trp |
| NM_001166292.1:c.2155C>T | NP_001159764.1:p.Arg719Trp |
| NM_001166292.2:c.2155C>T | NP_001159764.1:p.Arg719Trp |
| NM_003738.4:c.2155C>T | NP_003729.3:p.Arg719Trp |
| ENST00000372192.3:c.2155C>T | ENSP00000361266.3:p.Arg719Trp |
| ENST00000447098.6:c.2155C>T | ENSP00000389703.2:p.Arg719Trp |