Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417613C>T , CM000683.2:g.43417613C>T | GRCh38 |
| NG_052009.1:g.14520G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173354.5:c.1906G>A MANE Select | NP_775490.2:p.Gly636Ser |
| ENST00000270162.8:c.1906G>A MANE Select | ENSP00000270162.6:p.Gly636Ser |
| NM_173354.3:c.1906G>A | NP_775490.2:p.Gly636Ser |
| NM_173354.4:c.1906G>A | NP_775490.2:p.Gly636Ser |
| ENST00000270162.6:c.1906G>A | ENSP00000270162.6:p.Gly636Ser |
| XM_011529474.1:c.1759G>A | XP_011527776.1:p.Gly587Ser |
| XM_011529474.2:c.1759G>A | XP_011527776.1:p.Gly587Ser |