Linked Data
dbSNP Id:
rs746905889
ExAC:
9:117808863 C / A
gnomAD v2:
9-117808863-C-A
gnomAD v4:
9-115046584-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115046584C>A , CM000671.2:g.115046584C>A | GRCh38 |
| NC_000009.11:g.117808863C>A , CM000671.1:g.117808863C>A | GRCh37 |
| NC_000009.10:g.116848684C>A | NCBI36 |
| NG_029637.1:g.76674G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476680.2:c.318-4243G>T | ||
| ENST00000537320.6:c.3215-4243G>T | ENSP00000443478.1:n.3215-4243G>T | |
| ENST00000542877.6:c.3862G>T | ENSP00000442242.1:p.Val1288Phe | |
| ENST00000705190.1:c.1894G>T | ENSP00000516083.1:p.Val632Phe | |
| ENST00000705191.1:c.550G>T | ENSP00000516084.1:p.Val184Phe | |
| ENST00000705192.1:c.3909G>T | ||
| ENST00000350763.9:c.4951G>T MANE Select | ENSP00000265131.4:p.Val1651Phe | |
| ENST00000341037.8:c.4405G>T | ENSP00000339553.4:p.Val1469Phe | |
| ENST00000350763.8:c.4951G>T | ENSP00000265131.4:p.Val1651Phe | |
| ENST00000423613.6:c.4307-4243G>T | ENSP00000411406.2:n.4307-4243G>T | |
| ENST00000473855.1:n.269G>T | ||
| ENST00000476680.1:n.253-4243G>T | ||
| ENST00000498724.5:n.40-4243G>T | ||
| ENST00000535648.5:c.3862G>T | ENSP00000438152.2:p.Val1288Phe | |
| ENST00000537320.5:c.3215-4243G>T | ENSP00000443478.1:n.3215-4243G>T | |
| ENST00000542877.5:c.3862G>T | ENSP00000442242.1:p.Val1288Phe | |
| ENST00000544972.1:c.638G>T | ||
| NM_002160.3:c.4951G>T | NP_002151.2:p.Val1651Phe | |
| XM_005251972.2:c.4678G>T | XP_005252029.1:p.Val1560Phe | |
| XM_005251973.2:c.4034-4243G>T | XP_005252030.1:n.4034-4243G>T | |
| XM_005251974.2:c.3313G>T | XP_005252031.1:p.Val1105Phe | |
| XM_005251975.2:c.3215-4243G>T | XP_005252032.1:n.3215-4243G>T | |
| XM_006717096.2:c.5227G>T | XP_006717159.1:p.Val1743Phe | |
| XM_006717097.2:c.4678G>T | XP_006717160.1:p.Val1560Phe | |
| XM_006717098.2:c.4405G>T | XP_006717161.1:p.Val1469Phe | |
| XM_006717100.2:c.4307-4243G>T | XP_006717163.1:n.4307-4243G>T | |
| XM_006717101.2:c.3488-4243G>T | XP_006717164.1:n.3488-4243G>T | |
| XM_011518622.1:c.4954G>T | XP_011516924.1:p.Val1652Phe | |
| XM_011518623.1:c.4954G>T | XP_011516925.1:p.Val1652Phe | |
| XM_011518624.1:c.4408G>T | XP_011516926.1:p.Val1470Phe | |
| XM_011518625.1:c.4580-4243G>T | XP_011516927.1:n.4580-4243G>T | |
| XM_011518626.1:c.4135G>T | XP_011516928.1:p.Val1379Phe | |
| XM_011518627.1:c.3862G>T | XP_011516929.1:p.Val1288Phe | |
| XM_011518628.1:c.3761-4243G>T | XP_011516930.1:n.3761-4243G>T | |
| XM_011518629.1:c.3586G>T | XP_011516931.1:p.Val1196Phe | |
| XM_005251972.4:c.4678G>T | XP_005252029.1:p.Val1560Phe | |
| XM_005251973.4:c.4034-4243G>T | XP_005252030.1:n.4034-4243G>T | |
| XM_005251974.4:c.3313G>T | XP_005252031.1:p.Val1105Phe | |
| XM_005251975.4:c.3215-4243G>T | XP_005252032.1:n.3215-4243G>T | |
| XM_006717096.4:c.5227G>T | XP_006717159.1:p.Val1743Phe | |
| XM_006717097.4:c.4678G>T | XP_006717160.1:p.Val1560Phe | |
| XM_006717098.4:c.4405G>T | XP_006717161.1:p.Val1469Phe | |
| XM_006717101.4:c.3488-4243G>T | XP_006717164.1:n.3488-4243G>T | |
| XM_011518625.3:c.4580-4243G>T | XP_011516927.1:n.4580-4243G>T | |
| XM_011518626.3:c.4135G>T | XP_011516928.1:p.Val1379Phe | |
| XM_011518628.3:c.3761-4243G>T | XP_011516930.1:n.3761-4243G>T | |
| XM_011518629.3:c.3586G>T | XP_011516931.1:p.Val1196Phe | |
| XM_017014678.2:c.5500G>T | XP_016870167.1:p.Val1834Phe | |
| XM_017014679.2:c.5227G>T | XP_016870168.1:p.Val1743Phe | |
| XM_017014680.2:c.5224G>T | XP_016870169.1:p.Val1742Phe | |
| XM_017014681.2:c.4408G>T | XP_016870170.1:p.Val1470Phe | |
| XM_024447530.1:c.5500G>T | XP_024303298.1:p.Val1834Phe | |
| NM_002160.4:c.4951G>T MANE Select | NP_002151.2:p.Val1651Phe |