Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.756780A>G , CM000669.2:g.756780A>G | GRCh38 |
| NC_000007.13:g.796417A>G , CM000669.1:g.796417A>G | GRCh37 |
| NC_000007.12:g.762943A>G | NCBI36 |
| NG_033137.1:g.35080A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.1258-2A>G MANE Select | NP_060272.3:n.1258-2A>G |
| ENST00000297440.11:c.1258-2A>G MANE Select | ENSP00000297440.6:n.1258-2A>G |
| NM_017802.3:c.1258-2A>G | NP_060272.3:n.1258-2A>G |
| NR_075098.1:n.1216-2A>G | |
| NR_075098.2:n.1218-2A>G | |
| ENST00000297440.10:c.1258-2A>G | ENSP00000297440.6:n.1258-2A>G |
| ENST00000437419.5:c.575-2A>G | |
| ENST00000440747.5:c.662-2A>G | |
| XM_024446813.1:c.1258-2A>G | XP_024302581.1:n.1258-2A>G |
| XM_024446814.1:c.652-2A>G | XP_024302582.1:n.652-2A>G |