Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862792G>A , CM000666.2:g.4862792G>A | GRCh38 |
| NC_000004.11:g.4864519G>A , CM000666.1:g.4864519G>A | GRCh37 |
| NC_000004.10:g.4915420G>A | NCBI36 |
| NG_008121.1:g.8128G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002448.3:c.561G>A MANE Select | NP_002439.2:p.Leu187= |
| ENST00000382723.5:c.561G>A MANE Select | ENSP00000372170.4:p.Leu187= |
| ENST00000382723.4:c.561G>A | ENSP00000372170.4:p.Leu187= |
| ENST00000468421.1:n.273G>A |