Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.610364G>A , CM000681.2:g.610364G>A | GRCh38 |
| NC_000019.9:g.610364G>A , CM000681.1:g.610364G>A | GRCh37 |
| NC_000019.8:g.561364G>A | NCBI36 |
| NG_052810.1:g.25472G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001194.4:c.1543G>A MANE Select | NP_001185.3:p.Glu515Lys |
| ENST00000251287.3:c.1543G>A MANE Select | ENSP00000251287.1:p.Glu515Lys |
| NM_001194.3:c.1543G>A | NP_001185.3:p.Glu515Lys |
| ENST00000251287.2:c.1543G>A | ENSP00000251287.1:p.Glu515Lys |
| XR_001753828.1:n.1151C>T |