Linked Data
ClinVar Variation Id:
2542196
ClinVar RCV Id:
RCV004307844
dbSNP Id:
rs756086584
ExAC:
9:117808704 C / A
gnomAD v2:
9-117808704-C-A
gnomAD v3:
9-115046425-C-A
gnomAD v4:
9-115046425-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115046425C>A , CM000671.2:g.115046425C>A | GRCh38 |
| NC_000009.11:g.117808704C>A , CM000671.1:g.117808704C>A | GRCh37 |
| NC_000009.10:g.116848525C>A | NCBI36 |
| NG_029637.1:g.76833G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476680.2:c.318-4084G>T | ||
| ENST00000537320.6:c.3215-4084G>T | ENSP00000443478.1:n.3215-4084G>T | |
| ENST00000542877.6:c.4021G>T | ENSP00000442242.1:p.Ala1341Ser | |
| ENST00000705190.1:c.2053G>T | ENSP00000516083.1:p.Ala685Ser | |
| ENST00000705191.1:c.709G>T | ENSP00000516084.1:p.Ala237Ser | |
| ENST00000705192.1:c.4068G>T | ||
| ENST00000350763.9:c.5110G>T MANE Select | ENSP00000265131.4:p.Ala1704Ser | |
| ENST00000341037.8:c.4564G>T | ENSP00000339553.4:p.Ala1522Ser | |
| ENST00000350763.8:c.5110G>T | ENSP00000265131.4:p.Ala1704Ser | |
| ENST00000423613.6:c.4307-4084G>T | ENSP00000411406.2:n.4307-4084G>T | |
| ENST00000476680.1:n.253-4084G>T | ||
| ENST00000498724.5:n.40-4084G>T | ||
| ENST00000535648.5:c.4021G>T | ENSP00000438152.2:p.Ala1341Ser | |
| ENST00000537320.5:c.3215-4084G>T | ENSP00000443478.1:n.3215-4084G>T | |
| ENST00000542877.5:c.4021G>T | ENSP00000442242.1:p.Ala1341Ser | |
| ENST00000544972.1:c.797G>T | ||
| NM_002160.3:c.5110G>T | NP_002151.2:p.Ala1704Ser | |
| XM_005251972.2:c.4837G>T | XP_005252029.1:p.Ala1613Ser | |
| XM_005251973.2:c.4034-4084G>T | XP_005252030.1:n.4034-4084G>T | |
| XM_005251974.2:c.3472G>T | XP_005252031.1:p.Ala1158Ser | |
| XM_005251975.2:c.3215-4084G>T | XP_005252032.1:n.3215-4084G>T | |
| XM_006717096.2:c.5386G>T | XP_006717159.1:p.Ala1796Ser | |
| XM_006717097.2:c.4837G>T | XP_006717160.1:p.Ala1613Ser | |
| XM_006717098.2:c.4564G>T | XP_006717161.1:p.Ala1522Ser | |
| XM_006717100.2:c.4307-4084G>T | XP_006717163.1:n.4307-4084G>T | |
| XM_006717101.2:c.3488-4084G>T | XP_006717164.1:n.3488-4084G>T | |
| XM_011518622.1:c.5113G>T | XP_011516924.1:p.Ala1705Ser | |
| XM_011518623.1:c.5113G>T | XP_011516925.1:p.Ala1705Ser | |
| XM_011518624.1:c.4567G>T | XP_011516926.1:p.Ala1523Ser | |
| XM_011518625.1:c.4580-4084G>T | XP_011516927.1:n.4580-4084G>T | |
| XM_011518626.1:c.4294G>T | XP_011516928.1:p.Ala1432Ser | |
| XM_011518627.1:c.4021G>T | XP_011516929.1:p.Ala1341Ser | |
| XM_011518628.1:c.3761-4084G>T | XP_011516930.1:n.3761-4084G>T | |
| XM_011518629.1:c.3745G>T | XP_011516931.1:p.Ala1249Ser | |
| XM_005251972.4:c.4837G>T | XP_005252029.1:p.Ala1613Ser | |
| XM_005251973.4:c.4034-4084G>T | XP_005252030.1:n.4034-4084G>T | |
| XM_005251974.4:c.3472G>T | XP_005252031.1:p.Ala1158Ser | |
| XM_005251975.4:c.3215-4084G>T | XP_005252032.1:n.3215-4084G>T | |
| XM_006717096.4:c.5386G>T | XP_006717159.1:p.Ala1796Ser | |
| XM_006717097.4:c.4837G>T | XP_006717160.1:p.Ala1613Ser | |
| XM_006717098.4:c.4564G>T | XP_006717161.1:p.Ala1522Ser | |
| XM_006717101.4:c.3488-4084G>T | XP_006717164.1:n.3488-4084G>T | |
| XM_011518625.3:c.4580-4084G>T | XP_011516927.1:n.4580-4084G>T | |
| XM_011518626.3:c.4294G>T | XP_011516928.1:p.Ala1432Ser | |
| XM_011518628.3:c.3761-4084G>T | XP_011516930.1:n.3761-4084G>T | |
| XM_011518629.3:c.3745G>T | XP_011516931.1:p.Ala1249Ser | |
| XM_017014678.2:c.5659G>T | XP_016870167.1:p.Ala1887Ser | |
| XM_017014679.2:c.5386G>T | XP_016870168.1:p.Ala1796Ser | |
| XM_017014680.2:c.5383G>T | XP_016870169.1:p.Ala1795Ser | |
| XM_017014681.2:c.4567G>T | XP_016870170.1:p.Ala1523Ser | |
| XM_024447530.1:c.5659G>T | XP_024303298.1:p.Ala1887Ser | |
| NM_002160.4:c.5110G>T MANE Select | NP_002151.2:p.Ala1704Ser |