dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61406405C>G , CM000679.2:g.61406405C>G | GRCh38 |
| NC_000017.10:g.59483766C>G , CM000679.1:g.59483766C>G | GRCh37 |
| NC_000017.9:g.56838548C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240328.4:c.1686+569C>G MANE Select | ENSP00000240328.3:n.1686+569C>G | |
| ENST00000240328.3:c.1686+569C>G | ENSP00000240328.3:n.1686+569C>G | |
| ENST00000419047.5:c.*1223+569C>G | ENSP00000404781.1:n.*1223+569C>G | |
| ENST00000477081.1:n.2499C>G | ||
| NM_005994.3:c.1686+569C>G | NP_005985.3:n.1686+569C>G | |
| XM_011525158.1:c.1686+569C>G | XP_011523460.1:n.1686+569C>G | |
| XM_011525159.1:c.1008+569C>G | XP_011523461.1:n.1008+569C>G | |
| NM_005994.4:c.1686+569C>G MANE Select | NP_005985.3:n.1686+569C>G |