Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862574C>A , CM000666.2:g.4862574C>A | GRCh38 |
| NC_000004.11:g.4864301C>A , CM000666.1:g.4864301C>A | GRCh37 |
| NC_000004.10:g.4915202C>A | NCBI36 |
| NG_008121.1:g.7910C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002448.3:c.470-127C>A MANE Select | NP_002439.2:n.470-127C>A |
| ENST00000382723.5:c.470-127C>A MANE Select | ENSP00000372170.4:n.470-127C>A |
| ENST00000382723.4:c.470-127C>A | ENSP00000372170.4:n.470-127C>A |
| ENST00000468421.1:n.147C>A |