Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322923G= , CM000677.2:g.73322923G= | GRCh38 |
| NC_000015.9:g.73615264G= , CM000677.1:g.73615264G= | GRCh37 |
| NC_000015.8:g.71402317G= | NCBI36 |
| NG_009063.1:g.51342C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3170C= MANE Select | ENSP00000261917.3:p.Ala1057= | |
| ENST00000261917.3:c.3170C= | ENSP00000261917.3:p.Ala1057= | |
| NM_005477.2:c.3170C= | NP_005468.1:p.Ala1057= | |
| XM_011521148.1:c.1952C= | XP_011519450.1:p.Ala651= | |
| XM_011521148.2:c.1952C= | XP_011519450.1:p.Ala651= | |
| NM_005477.3:c.3170C= MANE Select | NP_005468.1:p.Ala1057= |