Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51682027A>G , CM000677.2:g.51682027A>G | GRCh38 |
| NC_000015.9:g.51974224A>G , CM000677.1:g.51974224A>G | GRCh37 |
| NC_000015.8:g.49761516A>G | NCBI36 |
| NG_013214.1:g.5675A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013243.4:c.82+190A>G MANE Select | NP_037375.2:n.82+190A>G |
| ENST00000220478.8:c.82+190A>G MANE Select | ENSP00000220478.3:n.82+190A>G |
| NM_001165257.1:c.-562+190A>G | NP_001158729.1:n.-562+190A>G |
| NM_001165257.2:c.-562+190A>G | NP_001158729.1:n.-562+190A>G |
| NM_013243.3:c.82+190A>G | NP_037375.2:n.82+190A>G |
| ENST00000220478.7:c.82+190A>G | ENSP00000220478.3:n.82+190A>G |
| ENST00000542355.6:c.-562+190A>G | ENSP00000445205.2:n.-562+190A>G |
| ENST00000558709.1:c.-419+190A>G | ENSP00000452745.1:n.-419+190A>G |