Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213761G>A , CM000667.2:g.1213761G>A | GRCh38 |
| NC_000005.9:g.1213876G>A , CM000667.1:g.1213876G>A | GRCh37 |
| NC_000005.8:g.1266876G>A | NCBI36 |
| NG_008282.1:g.17167G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774+188G>A MANE Select | ENSP00000305302.10:n.774+188G>A | |
| ENST00000304460.10:c.774+188G>A | ENSP00000305302.10:n.774+188G>A | |
| ENST00000515652.5:c.682+188G>A | ENSP00000425701.1:n.682+188G>A | |
| NM_001003841.2:c.774+188G>A | NP_001003841.1:n.774+188G>A | |
| NM_001003841.3:c.774+188G>A MANE Select | NP_001003841.1:n.774+188G>A |