Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40937332C>A , CM000677.2:g.40937332C>A | GRCh38 |
| NC_000015.9:g.41229530C>A , CM000677.1:g.41229530C>A | GRCh37 |
| NC_000015.8:g.39016822C>A | NCBI36 |
| NG_046974.1:g.13000C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019074.4:c.1944-86C>A MANE Select | NP_061947.1:n.1944-86C>A |
| ENST00000249749.7:c.1944-86C>A MANE Select | ENSP00000249749.5:n.1944-86C>A |
| NM_019074.3:c.1944-86C>A | NP_061947.1:n.1944-86C>A |
| ENST00000249749.6:c.1944-86C>A | ENSP00000249749.5:n.1944-86C>A |