Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122806G= , CM000679.2:g.72122806G= | GRCh38 |
| NC_000017.10:g.70118947G= , CM000679.1:g.70118947G= | GRCh37 |
| NC_000017.9:g.67630542G= | NCBI36 |
| NG_012490.1:g.6787G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.519G= MANE Select | ENSP00000245479.2:p.Lys173= | |
| ENST00000245479.2:c.519G= | ENSP00000245479.2:p.Lys173= | |
| NM_000346.3:c.519G= | NP_000337.1:p.Lys173= | |
| NM_000346.4:c.519G= MANE Select | NP_000337.1:p.Lys173= |