Linked Data
dbSNP Id:
rs1330363
gnomAD v2:
9-117813990-C-T
gnomAD v3:
9-115051711-C-T
gnomAD v4:
9-115051711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115051711C>T , CM000671.2:g.115051711C>T | GRCh38 |
| NC_000009.11:g.117813990C>T , CM000671.1:g.117813990C>T | GRCh37 |
| NC_000009.10:g.116853811C>T | NCBI36 |
| NG_029637.1:g.71547G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000476680.2:c.318-9370G>A | ||
| ENST00000537320.6:c.3215-9370G>A | ENSP00000443478.1:n.3215-9370G>A | |
| ENST00000542877.6:c.3763+1029G>A | ENSP00000442242.1:n.3763+1029G>A | |
| ENST00000705190.1:c.1523-3179G>A | ENSP00000516083.1:n.1523-3179G>A | |
| ENST00000705191.1:c.179-3179G>A | ENSP00000516084.1:n.179-3179G>A | |
| ENST00000705192.1:c.3811-5029G>A | ||
| ENST00000350763.9:c.4580-3179G>A MANE Select | ENSP00000265131.4:n.4580-3179G>A | |
| ENST00000341037.8:c.4307-5029G>A | ENSP00000339553.4:n.4307-5029G>A | |
| ENST00000350763.8:c.4580-3179G>A | ENSP00000265131.4:n.4580-3179G>A | |
| ENST00000423613.6:c.4306+8019G>A | ENSP00000411406.2:n.4306+8019G>A | |
| ENST00000473855.1:n.171-5029G>A | ||
| ENST00000476680.1:n.253-9370G>A | ||
| ENST00000481475.1:n.550+1029G>A | ||
| ENST00000498724.5:n.40-9370G>A | ||
| ENST00000535648.5:c.3763+1029G>A | ENSP00000438152.2:n.3763+1029G>A | |
| ENST00000537320.5:c.3215-9370G>A | ENSP00000443478.1:n.3215-9370G>A | |
| ENST00000542877.5:c.3763+1029G>A | ENSP00000442242.1:n.3763+1029G>A | |
| ENST00000544972.1:c.540-5029G>A | ||
| ENST00000635336.1:c.11-5029G>A | ENSP00000489385.1:n.11-5029G>A | |
| NM_002160.3:c.4580-3179G>A | NP_002151.2:n.4580-3179G>A | |
| XM_005251972.2:c.4580-5029G>A | XP_005252029.1:n.4580-5029G>A | |
| XM_005251973.2:c.4034-9370G>A | XP_005252030.1:n.4034-9370G>A | |
| XM_005251974.2:c.3215-5029G>A | XP_005252031.1:n.3215-5029G>A | |
| XM_005251975.2:c.3215-9370G>A | XP_005252032.1:n.3215-9370G>A | |
| XM_006717096.2:c.4855+1029G>A | XP_006717159.1:n.4855+1029G>A | |
| XM_006717097.2:c.4307-3179G>A | XP_006717160.1:n.4307-3179G>A | |
| XM_006717098.2:c.4307-5029G>A | XP_006717161.1:n.4307-5029G>A | |
| XM_006717100.2:c.4306+8019G>A | XP_006717163.1:n.4306+8019G>A | |
| XM_006717101.2:c.3488-9370G>A | XP_006717164.1:n.3488-9370G>A | |
| XM_011518622.1:c.4855+1029G>A | XP_011516924.1:n.4855+1029G>A | |
| XM_011518623.1:c.4582+1029G>A | XP_011516925.1:n.4582+1029G>A | |
| XM_011518624.1:c.4036+1029G>A | XP_011516926.1:n.4036+1029G>A | |
| XM_011518625.1:c.4579+5442G>A | XP_011516927.1:n.4579+5442G>A | |
| XM_011518626.1:c.3763+1029G>A | XP_011516928.1:n.3763+1029G>A | |
| XM_011518627.1:c.3763+1029G>A | XP_011516929.1:n.3763+1029G>A | |
| XM_011518628.1:c.3761-9370G>A | XP_011516930.1:n.3761-9370G>A | |
| XM_011518629.1:c.3488-5029G>A | XP_011516931.1:n.3488-5029G>A | |
| XM_011518630.1:c.4855+1029G>A | XP_011516932.1:n.4855+1029G>A | |
| XM_005251972.4:c.4580-5029G>A | XP_005252029.1:n.4580-5029G>A | |
| XM_005251973.4:c.4034-9370G>A | XP_005252030.1:n.4034-9370G>A | |
| XM_005251974.4:c.3215-5029G>A | XP_005252031.1:n.3215-5029G>A | |
| XM_005251975.4:c.3215-9370G>A | XP_005252032.1:n.3215-9370G>A | |
| XM_006717096.4:c.4855+1029G>A | XP_006717159.1:n.4855+1029G>A | |
| XM_006717097.4:c.4307-3179G>A | XP_006717160.1:n.4307-3179G>A | |
| XM_006717098.4:c.4307-5029G>A | XP_006717161.1:n.4307-5029G>A | |
| XM_006717101.4:c.3488-9370G>A | XP_006717164.1:n.3488-9370G>A | |
| XM_011518625.3:c.4579+5442G>A | XP_011516927.1:n.4579+5442G>A | |
| XM_011518626.3:c.3763+1029G>A | XP_011516928.1:n.3763+1029G>A | |
| XM_011518628.3:c.3761-9370G>A | XP_011516930.1:n.3761-9370G>A | |
| XM_011518629.3:c.3488-5029G>A | XP_011516931.1:n.3488-5029G>A | |
| XM_017014678.2:c.5128+1029G>A | XP_016870167.1:n.5128+1029G>A | |
| XM_017014679.2:c.4855+1029G>A | XP_016870168.1:n.4855+1029G>A | |
| XM_017014680.2:c.4853-3179G>A | XP_016870169.1:n.4853-3179G>A | |
| XM_017014681.2:c.4036+1029G>A | XP_016870170.1:n.4036+1029G>A | |
| XM_024447530.1:c.5128+1029G>A | XP_024303298.1:n.5128+1029G>A | |
| NM_002160.4:c.4580-3179G>A MANE Select | NP_002151.2:n.4580-3179G>A |