Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322914G= , CM000677.2:g.73322914G= | GRCh38 |
| NC_000015.9:g.73615255G= , CM000677.1:g.73615255G= | GRCh37 |
| NC_000015.8:g.71402308G= | NCBI36 |
| NG_009063.1:g.51351C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3179C= MANE Select | ENSP00000261917.3:p.Pro1060= | |
| ENST00000261917.3:c.3179C= | ENSP00000261917.3:p.Pro1060= | |
| NM_005477.2:c.3179C= | NP_005468.1:p.Pro1060= | |
| XM_011521148.1:c.1961C= | XP_011519450.1:p.Pro654= | |
| XM_011521148.2:c.1961C= | XP_011519450.1:p.Pro654= | |
| NM_005477.3:c.3179C= MANE Select | NP_005468.1:p.Pro1060= |