Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100722598G>A , CM000669.2:g.100722598G>A | GRCh38 |
| NC_000007.13:g.100320221G>A , CM000669.1:g.100320221G>A | GRCh37 |
| NC_000007.12:g.100158157G>A | NCBI36 |
| NG_021471.1:g.6799G>A | |
| NG_021471.2:g.6799G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000799.4:c.247-66G>A MANE Select | NP_000790.2:n.247-66G>A |
| ENST00000252723.3:c.247-66G>A MANE Select | ENSP00000252723.2:n.247-66G>A |
| NM_000799.2:c.247-66G>A | NP_000790.2:n.247-66G>A |
| NM_000799.3:c.247-66G>A | NP_000790.2:n.247-66G>A |
| ENST00000252723.2:c.247-66G>A | ENSP00000252723.2:n.247-66G>A |