Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1219031G>A , CM000667.2:g.1219031G>A | GRCh38 |
| NC_000005.9:g.1219146G>A , CM000667.1:g.1219146G>A | GRCh37 |
| NC_000005.8:g.1272146G>A | NCBI36 |
| NG_008282.1:g.22437G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003841.3:c.1302G>A MANE Select | NP_001003841.1:p.Gly434= |
| ENST00000304460.11:c.1302G>A MANE Select | ENSP00000305302.10:p.Gly434= |
| NM_001003841.2:c.1302G>A | NP_001003841.1:p.Gly434= |
| ENST00000304460.10:c.1302G>A | ENSP00000305302.10:p.Gly434= |
| ENST00000515652.5:c.*247G>A | ENSP00000425701.1:n.*247G>A |