Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322473G= , CM000677.2:g.73322473G= | GRCh38 |
| NC_000015.9:g.73614814G= , CM000677.1:g.73614814G= | GRCh37 |
| NC_000015.8:g.71401867G= | NCBI36 |
| NG_009063.1:g.51792C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.*8C= MANE Select | ENSP00000261917.3:n.*8C= | |
| ENST00000261917.3:c.*8C= | ENSP00000261917.3:n.*8C= | |
| NM_005477.2:c.*8C= | NP_005468.1:n.*8C= | |
| XM_011521148.1:c.*8C= | XP_011519450.1:n.*8C= | |
| XM_011521148.2:c.*8C= | XP_011519450.1:n.*8C= | |
| NM_005477.3:c.*8C= MANE Select | NP_005468.1:n.*8C= |