Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612262C= , CM000679.2:g.41612262C= | GRCh38 |
| NC_000017.10:g.39768514C= , CM000679.1:g.39768514C= | GRCh37 |
| NC_000017.9:g.37022040C= | NCBI36 |
| NG_008301.1:g.5566G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.427G= MANE Select | ENSP00000301653.3:p.Ala143= | |
| ENST00000301653.8:c.427G= | ENSP00000301653.3:p.Ala143= | |
| ENST00000588319.1:n.504G= | ||
| ENST00000593067.1:c.-288G= | ENSP00000467124.1:n.-288G= | |
| NM_005557.3:c.427G= | NP_005548.2:p.Ala143= | |
| NM_005557.4:c.427G= MANE Select | NP_005548.2:p.Ala143= |