Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52844819G>A , CM000675.2:g.52844819G>A | GRCh38 |
| NC_000013.10:g.53418954G>A , CM000675.1:g.53418954G>A | GRCh37 |
| NC_000013.9:g.52316955G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002590.4:c.2954C>T MANE Select | NP_002581.2:p.Ser985Leu |
| ENST00000377942.7:c.2954C>T MANE Select | ENSP00000367177.3:p.Ser985Leu |
| NM_002590.3:c.2954C>T | NP_002581.2:p.Ser985Leu |
| NM_032949.2:c.2663C>T | NP_116567.1:p.Ser888Leu |
| NM_032949.3:c.2663C>T | NP_116567.1:p.Ser888Leu |
| ENST00000338862.5:c.2663C>T | ENSP00000341350.4:p.Ser888Leu |
| ENST00000613548.1:n.384C>T |