Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075592T>C , CM000679.2:g.8075592T>C | GRCh38 |
| NC_000017.10:g.7978910T>C , CM000679.1:g.7978910T>C | GRCh37 |
| NC_000017.9:g.7919635T>C | NCBI36 |
| NG_007099.1:g.17112A>G | |
| NG_007099.2:g.17125A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1654+3A>G MANE Select | NP_001130.1:n.1654+3A>G |
| ENST00000647874.1:c.1654+3A>G MANE Select | ENSP00000497784.1:n.1654+3A>G |
| NM_001139.2:c.1654+3A>G | NP_001130.1:n.1654+3A>G |
| ENST00000319144.4:c.1654+3A>G | ENSP00000315167.4:n.1654+3A>G |
| ENST00000577351.5:n.479+583A>G | |
| ENST00000649809.1:c.718+3A>G | ENSP00000496845.1:n.718+3A>G |