Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3115082G>A , CM000681.2:g.3115082G>A | GRCh38 |
| NC_000019.9:g.3115080G>A , CM000681.1:g.3115080G>A | GRCh37 |
| NC_000019.8:g.3066080G>A | NCBI36 |
| NG_033852.2:g.25673G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002067.5:c.605+10G>A MANE Select | NP_002058.2:n.605+10G>A |
| ENST00000078429.9:c.605+10G>A MANE Select | ENSP00000078429.3:n.605+10G>A |
| NM_002067.4:c.605+10G>A | NP_002058.2:n.605+10G>A |
| ENST00000078429.8:c.605+10G>A | ENSP00000078429.3:n.605+10G>A |
| ENST00000587636.1:c.151+10G>A | |
| ENST00000588401.1:c.126+10G>A |