Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122848G= , CM000679.2:g.72122848G= | GRCh38 |
| NC_000017.10:g.70118989G= , CM000679.1:g.70118989G= | GRCh37 |
| NC_000017.9:g.67630584G= | NCBI36 |
| NG_012490.1:g.6829G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.561G= MANE Select | ENSP00000245479.2:p.Ala187= | |
| ENST00000245479.2:c.561G= | ENSP00000245479.2:p.Ala187= | |
| NM_000346.3:c.561G= | NP_000337.1:p.Ala187= | |
| NM_000346.4:c.561G= MANE Select | NP_000337.1:p.Ala187= |