Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323552G= , CM000677.2:g.73323552G= | GRCh38 |
| NC_000015.9:g.73615893G= , CM000677.1:g.73615893G= | GRCh37 |
| NC_000015.8:g.71402946G= | NCBI36 |
| NG_009063.1:g.50713C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2541C= MANE Select | ENSP00000261917.3:p.Ser847= | |
| ENST00000261917.3:c.2541C= | ENSP00000261917.3:p.Ser847= | |
| NM_005477.2:c.2541C= | NP_005468.1:p.Ser847= | |
| XM_011521148.1:c.1323C= | XP_011519450.1:p.Ser441= | |
| XM_011521148.2:c.1323C= | XP_011519450.1:p.Ser441= | |
| NM_005477.3:c.2541C= MANE Select | NP_005468.1:p.Ser847= |