Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612172C= , CM000679.2:g.41612172C= | GRCh38 |
| NC_000017.10:g.39768424C= , CM000679.1:g.39768424C= | GRCh37 |
| NC_000017.9:g.37021950C= | NCBI36 |
| NG_008301.1:g.5656G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.517G= MANE Select | ENSP00000301653.3:p.Asp173= | |
| ENST00000301653.8:c.517G= | ENSP00000301653.3:p.Asp173= | |
| ENST00000588319.1:n.594G= | ||
| ENST00000593067.1:c.-198G= | ENSP00000467124.1:n.-198G= | |
| NM_005557.3:c.517G= | NP_005548.2:p.Asp173= | |
| NM_005557.4:c.517G= MANE Select | NP_005548.2:p.Asp173= |