Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612176G= , CM000679.2:g.41612176G= | GRCh38 |
| NC_000017.10:g.39768428G= , CM000679.1:g.39768428G= | GRCh37 |
| NC_000017.9:g.37021954G= | NCBI36 |
| NG_008301.1:g.5652C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.513C= MANE Select | ENSP00000301653.3:p.Ile171= | |
| ENST00000301653.8:c.513C= | ENSP00000301653.3:p.Ile171= | |
| ENST00000588319.1:n.590C= | ||
| ENST00000593067.1:c.-202C= | ENSP00000467124.1:n.-202C= | |
| NM_005557.3:c.513C= | NP_005548.2:p.Ile171= | |
| NM_005557.4:c.513C= MANE Select | NP_005548.2:p.Ile171= |