gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08986046 (EAS)
Genomes Max Group AF
0.08986046 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69820364T>C , CM000672.2:g.69820364T>C | GRCh38 |
| NC_000010.10:g.71580120T>C , CM000672.1:g.71580120T>C | GRCh37 |
| NC_000010.9:g.71250126T>C | NCBI36 |
| NG_046344.1:g.23477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398969.8:c.295-2005T>C | ENSP00000381941.5:n.295-2005T>C | |
| ENST00000673628.2:c.295-2005T>C | ENSP00000501050.2:n.295-2005T>C | |
| ENST00000673641.2:c.295-2005T>C | ENSP00000501125.2:n.295-2005T>C | |
| ENST00000673802.2:c.295-2005T>C | ENSP00000501147.2:n.295-2005T>C | |
| ENST00000673914.2:c.295-2005T>C | ENSP00000501202.2:n.295-2005T>C | |
| ENST00000673957.2:c.295-2005T>C | ENSP00000500966.2:n.295-2005T>C | |
| ENST00000674008.2:c.295-2005T>C | ENSP00000501091.2:n.295-2005T>C | |
| ENST00000674040.2:c.295-2005T>C | ENSP00000501131.2:n.295-2005T>C | |
| ENST00000682679.1:c.295-2005T>C | ENSP00000507571.1:n.295-2005T>C | |
| ENST00000357811.8:c.295-2005T>C | ENSP00000350463.4:n.295-2005T>C | |
| ENST00000398978.8:c.295-2005T>C | ENSP00000381949.3:n.295-2005T>C | |
| ENST00000645393.2:c.295-2005T>C MANE Select | ENSP00000496051.1:n.295-2005T>C | |
| ENST00000673628.1:c.186-2005T>C | ||
| ENST00000673641.1:c.111-2005T>C | ||
| ENST00000673802.1:c.111-2005T>C | ||
| ENST00000673830.1:n.809-2005T>C | ||
| ENST00000673842.1:c.295-2005T>C | ENSP00000501058.1:n.295-2005T>C | |
| ENST00000673914.1:c.212-2005T>C | ||
| ENST00000673957.1:c.84-2005T>C | ||
| ENST00000674008.1:c.258-2005T>C | ||
| ENST00000674040.1:c.212-2005T>C | ||
| ENST00000674121.1:c.295-2005T>C | ENSP00000501084.1:n.295-2005T>C | |
| ENST00000354547.7:c.295-2005T>C | ENSP00000346553.3:n.295-2005T>C | |
| ENST00000357811.7:c.295-2005T>C | ENSP00000350463.3:n.295-2005T>C | |
| ENST00000398969.7:c.295-2005T>C | ENSP00000381941.4:n.295-2005T>C | |
| ENST00000398978.7:c.295-2005T>C | ENSP00000381949.3:n.295-2005T>C | |
| ENST00000479733.5:c.295-2005T>C | ENSP00000430089.1:n.295-2005T>C | |
| ENST00000517713.5:c.295-2005T>C | ENSP00000430061.1:n.295-2005T>C | |
| ENST00000520133.5:c.295-2005T>C | ENSP00000430173.1:n.295-2005T>C | |
| ENST00000520267.5:c.295-2005T>C | ENSP00000428057.1:n.295-2005T>C | |
| ENST00000522165.5:c.295-2005T>C | ENSP00000428342.1:n.295-2005T>C | |
| NM_001130103.1:c.295-2005T>C | NP_001123575.1:n.295-2005T>C | |
| NM_080798.3:c.295-2005T>C | NP_542988.3:n.295-2005T>C | |
| NM_080800.3:c.295-2005T>C | NP_542990.3:n.295-2005T>C | |
| NM_080801.3:c.295-2005T>C | NP_542991.3:n.295-2005T>C | |
| NM_080802.3:c.295-2005T>C | NP_542992.3:n.295-2005T>C | |
| NM_080805.3:c.295-2005T>C | NP_542995.3:n.295-2005T>C | |
| XM_011539292.1:c.295-2005T>C | XP_011537594.1:n.295-2005T>C | |
| XM_011539293.1:c.295-2005T>C | XP_011537595.1:n.295-2005T>C | |
| XM_011539294.1:c.295-2005T>C | XP_011537596.1:n.295-2005T>C | |
| XM_011539295.1:c.295-2005T>C | XP_011537597.1:n.295-2005T>C | |
| XM_011539296.1:c.295-2005T>C | XP_011537598.1:n.295-2005T>C | |
| XR_946039.1:n.87+437A>G | ||
| NM_001320951.1:c.295-2005T>C | NP_001307880.1:n.295-2005T>C | |
| XM_011539292.3:c.295-2005T>C | XP_011537594.1:n.295-2005T>C | |
| XM_011539293.3:c.295-2005T>C | XP_011537595.1:n.295-2005T>C | |
| XM_011539294.3:c.295-2005T>C | XP_011537596.1:n.295-2005T>C | |
| XM_011539295.3:c.295-2005T>C | XP_011537597.1:n.295-2005T>C | |
| XM_017015676.2:c.295-2005T>C | XP_016871165.1:n.295-2005T>C | |
| XM_017015677.2:c.295-2005T>C | XP_016871166.1:n.295-2005T>C | |
| XM_017015679.2:c.295-2005T>C | XP_016871168.1:n.295-2005T>C | |
| XM_017015680.2:c.295-2005T>C | XP_016871169.1:n.295-2005T>C | |
| XM_017015681.2:c.295-2005T>C | XP_016871170.1:n.295-2005T>C | |
| XM_017015682.2:c.295-2005T>C | XP_016871171.1:n.295-2005T>C | |
| XM_017015683.2:c.295-2005T>C | XP_016871172.1:n.295-2005T>C | |
| XM_017015684.2:c.295-2005T>C | XP_016871173.1:n.295-2005T>C | |
| XM_017015685.2:c.295-2005T>C | XP_016871174.1:n.295-2005T>C | |
| XM_017015686.2:c.295-2005T>C | XP_016871175.1:n.295-2005T>C | |
| XM_017015687.2:c.295-2005T>C | XP_016871176.1:n.295-2005T>C | |
| XM_017015688.2:c.295-2005T>C | XP_016871177.1:n.295-2005T>C | |
| XM_017015689.2:c.295-2005T>C | XP_016871178.1:n.295-2005T>C | |
| XM_017015690.2:c.295-2005T>C | XP_016871179.1:n.295-2005T>C | |
| XM_017015691.2:c.295-2005T>C | XP_016871180.1:n.295-2005T>C | |
| XM_017015692.2:c.295-2005T>C | XP_016871181.1:n.295-2005T>C | |
| XM_017015693.2:c.295-2005T>C | XP_016871182.1:n.295-2005T>C | |
| XM_017015694.2:c.295-2005T>C | XP_016871183.1:n.295-2005T>C | |
| XM_017015695.2:c.295-2005T>C | XP_016871184.1:n.295-2005T>C | |
| XM_017015697.2:c.-359-2005T>C | XP_016871186.1:n.-359-2005T>C | |
| XM_024447815.1:c.295-2005T>C | XP_024303583.1:n.295-2005T>C | |
| XM_024447816.1:c.295-2005T>C | XP_024303584.1:n.295-2005T>C | |
| XM_024447817.1:c.295-2005T>C | XP_024303585.1:n.295-2005T>C | |
| XM_024447818.1:c.295-2005T>C | XP_024303586.1:n.295-2005T>C | |
| XR_001747024.2:n.884-2005T>C | ||
| XR_946039.2:n.1523+437A>G | ||
| NM_001130103.2:c.295-2005T>C | NP_001123575.1:n.295-2005T>C | |
| NM_001320951.2:c.295-2005T>C | NP_001307880.1:n.295-2005T>C | |
| NM_001368882.1:c.295-2005T>C MANE Select | NP_001355811.1:n.295-2005T>C | |
| NM_001368883.1:c.295-2005T>C | NP_001355812.1:n.295-2005T>C | |
| NM_001368884.1:c.295-2005T>C | NP_001355813.1:n.295-2005T>C | |
| NM_001368885.1:c.295-2005T>C | NP_001355814.1:n.295-2005T>C | |
| NM_001368886.1:c.-359-2005T>C | NP_001355815.1:n.-359-2005T>C | |
| NM_001368895.1:c.295-2005T>C | NP_001355824.1:n.295-2005T>C | |
| NM_001368896.1:c.295-2005T>C | NP_001355825.1:n.295-2005T>C | |
| NM_001368897.1:c.295-2005T>C | NP_001355826.1:n.295-2005T>C | |
| NM_001368898.1:c.295-2005T>C | NP_001355827.1:n.295-2005T>C | |
| NM_080798.4:c.295-2005T>C | NP_542988.3:n.295-2005T>C | |
| NM_080800.4:c.295-2005T>C | NP_542990.3:n.295-2005T>C | |
| NM_080801.4:c.295-2005T>C | NP_542991.3:n.295-2005T>C | |
| NM_080802.4:c.295-2005T>C | NP_542992.3:n.295-2005T>C | |
| NM_080805.4:c.295-2005T>C | NP_542995.3:n.295-2005T>C |