Linked Data
dbSNP Id:
rs2421826
gnomAD v2:
11-35230605-G-A
gnomAD v3:
11-35209058-G-A
gnomAD v4:
11-35209058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35209058G>A , CM000673.2:g.35209058G>A | GRCh38 |
| NC_000011.9:g.35230605G>A , CM000673.1:g.35230605G>A | GRCh37 |
| NC_000011.8:g.35187181G>A | NCBI36 |
| NG_008937.1:g.75189G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263398.11:c.668-5794G>A | ENSP00000263398.6:n.668-5794G>A | |
| ENST00000428726.8:c.1516+852G>A MANE Select | ENSP00000398632.2:n.1516+852G>A | |
| ENST00000525685.6:c.627+852G>A | ||
| ENST00000526000.6:c.508-2188G>A | ||
| ENST00000526553.6:c.473+852G>A | ||
| ENST00000527889.6:c.543+852G>A | ||
| ENST00000531110.6:c.652+852G>A | ENSP00000436549.2:n.652+852G>A | |
| ENST00000639002.1:c.79+852G>A | ENSP00000492449.1:n.79+852G>A | |
| ENST00000263398.10:c.668-5794G>A | ENSP00000263398.6:n.668-5794G>A | |
| ENST00000278385.10:c.277+852G>A | ENSP00000278385.6:n.277+852G>A | |
| ENST00000278386.10:c.234-12647G>A | ENSP00000278386.6:n.234-12647G>A | |
| ENST00000279452.10:c.455-5794G>A | ENSP00000279452.6:n.455-5794G>A | |
| ENST00000352818.8:c.668-10258G>A | ENSP00000309732.6:n.668-10258G>A | |
| ENST00000415148.6:c.1387+852G>A | ENSP00000389830.2:n.1387+852G>A | |
| ENST00000425428.6:c.*291-5794G>A | ENSP00000395953.2:n.*291-5794G>A | |
| ENST00000428726.6:c.1516+852G>A | ENSP00000398632.2:n.1516+852G>A | |
| ENST00000433892.6:c.769+852G>A | ENSP00000392331.2:n.769+852G>A | |
| ENST00000434472.6:c.668-2188G>A | ENSP00000404447.2:n.668-2188G>A | |
| ENST00000442151.6:c.666-5794G>A | ||
| ENST00000525293.5:n.168-2188G>A | ||
| ENST00000525685.5:c.627+852G>A | ||
| ENST00000525688.5:c.311-5794G>A | ENSP00000436980.1:n.311-5794G>A | |
| ENST00000526000.5:c.509-2188G>A | ENSP00000434465.1:n.509-2188G>A | |
| ENST00000526553.5:c.473+852G>A | ||
| ENST00000526669.6:c.290-10282G>A | ENSP00000432704.2:n.290-10282G>A | |
| ENST00000528086.5:n.570+852G>A | ||
| ENST00000528672.1:c.340+852G>A | ENSP00000431860.1:n.340+852G>A | |
| ENST00000531110.5:c.652+852G>A | ENSP00000436549.1:n.652+852G>A | |
| ENST00000531873.5:c.430-907G>A | ||
| ENST00000533222.5:c.394+852G>A | ENSP00000435321.1:n.394+852G>A | |
| NM_000610.3:c.1516+852G>A | NP_000601.3:n.1516+852G>A | |
| NM_001001389.1:c.1387+852G>A | NP_001001389.1:n.1387+852G>A | |
| NM_001001390.1:c.769+852G>A | NP_001001390.1:n.769+852G>A | |
| NM_001001391.1:c.668-5794G>A | NP_001001391.1:n.668-5794G>A | |
| NM_001001392.1:c.234-12647G>A | NP_001001392.1:n.234-12647G>A | |
| NM_001202555.1:c.668-2188G>A | NP_001189484.1:n.668-2188G>A | |
| NM_001202556.1:c.668-10258G>A | NP_001189485.1:n.668-10258G>A | |
| NM_001202557.1:c.668-5794G>A | NP_001189486.1:n.668-5794G>A | |
| XM_005253231.2:c.1519+852G>A | XP_005253288.1:n.1519+852G>A | |
| XM_005253232.2:c.1516+852G>A | XP_005253289.1:n.1516+852G>A | |
| XM_005253233.2:c.1399+852G>A | XP_005253290.1:n.1399+852G>A | |
| XM_005253234.2:c.1396+852G>A | XP_005253291.1:n.1396+852G>A | |
| XM_005253235.2:c.1390+852G>A | XP_005253292.1:n.1390+852G>A | |
| XM_005253238.2:c.1030+852G>A | XP_005253295.1:n.1030+852G>A | |
| XM_005253239.2:c.1024+852G>A | XP_005253296.1:n.1024+852G>A | |
| XM_005253240.2:c.895+852G>A | XP_005253297.1:n.895+852G>A | |
| XM_006718388.1:c.1513+852G>A | XP_006718451.1:n.1513+852G>A | |
| XM_011520482.1:c.1519+852G>A | XP_011518784.1:n.1519+852G>A | |
| XM_011520483.1:c.1264+852G>A | XP_011518785.1:n.1264+852G>A | |
| XM_011520484.1:c.1261+852G>A | XP_011518786.1:n.1261+852G>A | |
| XM_011520485.1:c.1258+852G>A | XP_011518787.1:n.1258+852G>A | |
| XM_011520486.1:c.901+852G>A | XP_011518788.1:n.901+852G>A | |
| XM_011520488.1:c.769+852G>A | XP_011518790.1:n.769+852G>A | |
| XM_005253231.3:c.1519+852G>A | XP_005253288.1:n.1519+852G>A | |
| XM_005253232.3:c.1516+852G>A | XP_005253289.1:n.1516+852G>A | |
| XM_005253235.3:c.1390+852G>A | XP_005253292.1:n.1390+852G>A | |
| XM_005253238.3:c.1030+852G>A | XP_005253295.1:n.1030+852G>A | |
| XM_005253239.3:c.1024+852G>A | XP_005253296.1:n.1024+852G>A | |
| XM_005253240.3:c.895+852G>A | XP_005253297.1:n.895+852G>A | |
| XM_006718388.2:c.1513+852G>A | XP_006718451.1:n.1513+852G>A | |
| XM_011520482.2:c.1519+852G>A | XP_011518784.1:n.1519+852G>A | |
| XM_011520483.2:c.1264+852G>A | XP_011518785.1:n.1264+852G>A | |
| XM_011520484.2:c.1261+852G>A | XP_011518786.1:n.1261+852G>A | |
| XM_011520485.2:c.1258+852G>A | XP_011518787.1:n.1258+852G>A | |
| XM_011520486.2:c.901+852G>A | XP_011518788.1:n.901+852G>A | |
| XM_011520488.2:c.769+852G>A | XP_011518790.1:n.769+852G>A | |
| XM_017018583.2:c.1387+852G>A | XP_016874072.1:n.1387+852G>A | |
| XM_017018584.2:c.923-5794G>A | XP_016874073.1:n.923-5794G>A | |
| XM_017018585.2:c.794-5794G>A | XP_016874074.1:n.794-5794G>A | |
| NM_000610.4:c.1516+852G>A MANE Select | NP_000601.3:n.1516+852G>A | |
| NM_001001389.2:c.1387+852G>A | NP_001001389.1:n.1387+852G>A | |
| NM_001001390.2:c.769+852G>A | NP_001001390.1:n.769+852G>A | |
| NM_001001391.2:c.668-5794G>A | NP_001001391.1:n.668-5794G>A | |
| NM_001001392.2:c.234-12647G>A | NP_001001392.1:n.234-12647G>A | |
| NM_001202555.2:c.668-2188G>A | NP_001189484.1:n.668-2188G>A | |
| NM_001202556.2:c.668-10258G>A | NP_001189485.1:n.668-10258G>A | |
| NM_001202557.2:c.668-5794G>A | NP_001189486.1:n.668-5794G>A |