Linked Data
dbSNP Id:
rs570801609
gnomAD v2:
11-126281807-C-G
gnomAD v3:
11-126411912-C-G
gnomAD v4:
11-126411912-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126411912C>G , CM000673.2:g.126411912C>G | GRCh38 |
| NC_000011.9:g.126281807C>G , CM000673.1:g.126281807C>G | GRCh37 |
| NC_000011.8:g.125787017C>G | NCBI36 |
| NG_053025.1:g.61268C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356132.9:c.835-1593C>G | ENSP00000348451.5:n.835-1593C>G | |
| ENST00000444328.7:c.772-1593C>G MANE Select | ENSP00000394354.2:n.772-1593C>G | |
| ENST00000676831.1:n.967-1593C>G | ||
| ENST00000676867.1:c.772-1418C>G | ENSP00000503991.1:n.772-1418C>G | |
| ENST00000677503.1:c.760-1675C>G | ENSP00000504548.1:n.760-1675C>G | |
| ENST00000677721.1:c.*36-1593C>G | ENSP00000502908.1:n.*36-1593C>G | |
| ENST00000678865.1:c.772-1675C>G | ENSP00000504245.1:n.772-1675C>G | |
| ENST00000227495.10:c.760-1593C>G | ENSP00000227495.6:n.760-1593C>G | |
| ENST00000356132.8:c.790-1593C>G | ENSP00000348451.4:n.790-1593C>G | |
| ENST00000392669.6:c.772-1593C>G | ENSP00000376437.2:n.772-1593C>G | |
| ENST00000444328.6:c.772-1593C>G | ENSP00000394354.2:n.772-1593C>G | |
| ENST00000449406.6:c.739-1593C>G | ENSP00000399444.2:n.739-1593C>G | |
| ENST00000524834.5:n.629+2501C>G | ||
| ENST00000524860.1:c.280-1593C>G | ENSP00000431170.1:n.280-1593C>G | |
| ENST00000526727.5:c.772-1593C>G | ENSP00000436047.1:n.772-1593C>G | |
| ENST00000530591.5:c.760-1593C>G | ENSP00000433989.1:n.760-1593C>G | |
| ENST00000531217.5:c.*330-1593C>G | ENSP00000432929.1:n.*330-1593C>G | |
| ENST00000532243.5:c.769-1593C>G | ENSP00000434349.1:n.769-1593C>G | |
| ENST00000533826.1:n.192-1485C>G | ||
| ENST00000534083.5:c.772-1593C>G | ENSP00000433318.1:n.772-1593C>G | |
| ENST00000534457.5:c.757-1593C>G | ENSP00000434668.1:n.757-1593C>G | |
| NM_001254757.1:c.772-1593C>G | NP_001241686.1:n.772-1593C>G | |
| NM_001254758.1:c.772-1593C>G | NP_001241687.1:n.772-1593C>G | |
| NM_001254759.1:c.769-1593C>G | NP_001241688.1:n.769-1593C>G | |
| NM_006278.2:c.760-1593C>G | NP_006269.1:n.760-1593C>G | |
| XM_011542959.1:c.771+2501C>G | XP_011541261.1:n.771+2501C>G | |
| XM_011542960.1:c.771+2501C>G | XP_011541262.1:n.771+2501C>G | |
| XM_011542961.1:c.771+2501C>G | XP_011541263.1:n.771+2501C>G | |
| XM_011542962.1:c.771+2501C>G | XP_011541264.1:n.771+2501C>G | |
| NM_001348396.1:c.835-1593C>G | NP_001335325.1:n.835-1593C>G | |
| NM_001348397.1:c.835-1593C>G | NP_001335326.1:n.835-1593C>G | |
| NM_001348398.1:c.760-1675C>G | NP_001335327.1:n.760-1675C>G | |
| NM_001348399.1:c.772-1593C>G | NP_001335328.1:n.772-1593C>G | |
| NM_001348400.1:c.760-1593C>G | NP_001335329.1:n.760-1593C>G | |
| NR_145671.1:n.1030-1418C>G | ||
| XM_024448658.1:c.772-1593C>G | XP_024304426.1:n.772-1593C>G | |
| XM_024448659.1:c.772-1593C>G | XP_024304427.1:n.772-1593C>G | |
| XM_024448660.1:c.772-1593C>G | XP_024304428.1:n.772-1593C>G | |
| NM_001254757.2:c.772-1593C>G MANE Select | NP_001241686.1:n.772-1593C>G | |
| NM_001254759.2:c.769-1593C>G | NP_001241688.1:n.769-1593C>G | |
| NM_001348396.2:c.835-1593C>G | NP_001335325.1:n.835-1593C>G | |
| NM_001348397.2:c.835-1593C>G | NP_001335326.1:n.835-1593C>G | |
| NM_001348398.2:c.760-1675C>G | NP_001335327.1:n.760-1675C>G | |
| NM_001348399.2:c.772-1593C>G | NP_001335328.1:n.772-1593C>G | |
| NM_001348400.2:c.760-1593C>G | NP_001335329.1:n.760-1593C>G | |
| NM_006278.3:c.760-1593C>G | NP_006269.1:n.760-1593C>G | |
| NR_145671.2:n.989-1418C>G | ||
| NM_001254758.2:c.772-1593C>G | NP_001241687.1:n.772-1593C>G |