Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109577110C>A , CM000663.2:g.109577110C>A | GRCh38 |
| NC_000001.10:g.110119732C>A , CM000663.1:g.110119732C>A | GRCh37 |
| NC_000001.9:g.109921255C>A | NCBI36 |
| NG_032795.1:g.33547C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006496.4:c.304-2094C>A MANE Select | NP_006487.1:n.304-2094C>A |
| ENST00000369851.7:c.304-2094C>A MANE Select | ENSP00000358867.4:n.304-2094C>A |
| NM_006496.3:c.304-2094C>A | NP_006487.1:n.304-2094C>A |
| ENST00000369851.5:c.304-2094C>A | ENSP00000358867.4:n.304-2094C>A |