gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126392721C>G , CM000673.2:g.126392721C>G | GRCh38 |
| NC_000011.9:g.126262616C>G , CM000673.1:g.126262616C>G | GRCh37 |
| NC_000011.8:g.125767826C>G | NCBI36 |
| NG_053025.1:g.42077C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356132.9:c.4-13375C>G | ENSP00000348451.5:n.4-13375C>G | |
| ENST00000444328.7:c.-60-13375C>G MANE Select | ENSP00000394354.2:n.-60-13375C>G | |
| ENST00000676545.1:c.-60-13375C>G | ENSP00000503901.1:n.-60-13375C>G | |
| ENST00000676867.1:c.-60-13375C>G | ENSP00000503991.1:n.-60-13375C>G | |
| ENST00000677503.1:c.-60-13375C>G | ENSP00000504548.1:n.-60-13375C>G | |
| ENST00000677721.1:c.-60-13375C>G | ENSP00000502908.1:n.-60-13375C>G | |
| ENST00000678865.1:c.-60-13375C>G | ENSP00000504245.1:n.-60-13375C>G | |
| ENST00000227495.10:c.-60-13375C>G | ENSP00000227495.6:n.-60-13375C>G | |
| ENST00000444328.6:c.-60-13375C>G | ENSP00000394354.2:n.-60-13375C>G | |
| ENST00000526311.5:c.-61+367C>G | ENSP00000432647.1:n.-61+367C>G | |
| ENST00000528605.5:n.106-13375C>G | ||
| ENST00000530591.5:c.-60-13375C>G | ENSP00000433989.1:n.-60-13375C>G | |
| ENST00000531217.5:c.-60-13375C>G | ENSP00000432929.1:n.-60-13375C>G | |
| ENST00000534083.5:c.-60-13375C>G | ENSP00000433318.1:n.-60-13375C>G | |
| ENST00000534733.6:c.88-13375C>G | ENSP00000433495.2:n.88-13375C>G | |
| NM_001254757.1:c.-60-13375C>G | NP_001241686.1:n.-60-13375C>G | |
| NM_006278.2:c.-60-13375C>G | NP_006269.1:n.-60-13375C>G | |
| NM_001348396.1:c.4-13375C>G | NP_001335325.1:n.4-13375C>G | |
| NM_001348397.1:c.4-13375C>G | NP_001335326.1:n.4-13375C>G | |
| NM_001348398.1:c.-60-13375C>G | NP_001335327.1:n.-60-13375C>G | |
| NM_001348399.1:c.-60-13375C>G | NP_001335328.1:n.-60-13375C>G | |
| NM_001348400.1:c.-60-13375C>G | NP_001335329.1:n.-60-13375C>G | |
| NR_145671.1:n.199-13375C>G | ||
| XM_024448658.1:c.-61+7874C>G | XP_024304426.1:n.-61+7874C>G | |
| XM_024448659.1:c.-61+11813C>G | XP_024304427.1:n.-61+11813C>G | |
| NM_001254757.2:c.-60-13375C>G MANE Select | NP_001241686.1:n.-60-13375C>G | |
| NM_001348396.2:c.4-13375C>G | NP_001335325.1:n.4-13375C>G | |
| NM_001348397.2:c.4-13375C>G | NP_001335326.1:n.4-13375C>G | |
| NM_001348398.2:c.-60-13375C>G | NP_001335327.1:n.-60-13375C>G | |
| NM_001348399.2:c.-60-13375C>G | NP_001335328.1:n.-60-13375C>G | |
| NM_001348400.2:c.-60-13375C>G | NP_001335329.1:n.-60-13375C>G | |
| NM_006278.3:c.-60-13375C>G | NP_006269.1:n.-60-13375C>G | |
| NR_145671.2:n.158-13375C>G |