Linked Data
ClinVar Variation Id:
97008
dbSNP Id:
rs137933052
ExAC:
9:117803295 C / T
gnomAD v2:
9-117803295-C-T
gnomAD v3:
9-115041016-C-T
gnomAD v4:
9-115041016-C-T
PubMed:
PMID:23936043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115041016C>T , CM000671.2:g.115041016C>T | GRCh38 |
| NC_000009.11:g.117803295C>T , CM000671.1:g.117803295C>T | GRCh37 |
| NC_000009.10:g.116843116C>T | NCBI36 |
| NG_029637.1:g.82242G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000476680.2:c.509G>A | ||
| ENST00000537320.6:c.3406G>A | ENSP00000443478.1:p.Val1136Met | |
| ENST00000542877.6:c.4228G>A | ENSP00000442242.1:p.Val1410Met | |
| ENST00000705190.1:c.2260G>A | ENSP00000516083.1:p.Val754Met | |
| ENST00000705191.1:c.916G>A | ENSP00000516084.1:p.Val306Met | |
| ENST00000705192.1:c.4275G>A | ||
| ENST00000350763.9:c.5317G>A MANE Select | ENSP00000265131.4:p.Val1773Met | |
| ENST00000341037.8:c.4771G>A | ENSP00000339553.4:p.Val1591Met | |
| ENST00000350763.8:c.5317G>A | ENSP00000265131.4:p.Val1773Met | |
| ENST00000423613.6:c.4498G>A | ENSP00000411406.2:p.Val1500Met | |
| ENST00000476680.1:n.444G>A | ||
| ENST00000498724.5:n.231G>A | ||
| ENST00000535648.5:c.4228G>A | ENSP00000438152.2:p.Val1410Met | |
| ENST00000537320.5:c.3406G>A | ENSP00000443478.1:p.Val1136Met | |
| ENST00000542877.5:c.4228G>A | ENSP00000442242.1:p.Val1410Met | |
| ENST00000544972.1:c.1004G>A | ||
| NM_002160.3:c.5317G>A | NP_002151.2:p.Val1773Met | |
| XM_005251972.2:c.5044G>A | XP_005252029.1:p.Val1682Met | |
| XM_005251973.2:c.4225G>A | XP_005252030.1:p.Val1409Met | |
| XM_005251974.2:c.3679G>A | XP_005252031.1:p.Val1227Met | |
| XM_005251975.2:c.3406G>A | XP_005252032.1:p.Val1136Met | |
| XM_006717096.2:c.5593G>A | XP_006717159.1:p.Val1865Met | |
| XM_006717097.2:c.5044G>A | XP_006717160.1:p.Val1682Met | |
| XM_006717098.2:c.4771G>A | XP_006717161.1:p.Val1591Met | |
| XM_006717100.2:c.4498G>A | XP_006717163.1:p.Val1500Met | |
| XM_006717101.2:c.3679G>A | XP_006717164.1:p.Val1227Met | |
| XM_011518622.1:c.5320G>A | XP_011516924.1:p.Val1774Met | |
| XM_011518623.1:c.5320G>A | XP_011516925.1:p.Val1774Met | |
| XM_011518624.1:c.4774G>A | XP_011516926.1:p.Val1592Met | |
| XM_011518625.1:c.4771G>A | XP_011516927.1:p.Val1591Met | |
| XM_011518626.1:c.4501G>A | XP_011516928.1:p.Val1501Met | |
| XM_011518627.1:c.4228G>A | XP_011516929.1:p.Val1410Met | |
| XM_011518628.1:c.3952G>A | XP_011516930.1:p.Val1318Met | |
| XM_011518629.1:c.3952G>A | XP_011516931.1:p.Val1318Met | |
| XM_005251972.4:c.5044G>A | XP_005252029.1:p.Val1682Met | |
| XM_005251973.4:c.4225G>A | XP_005252030.1:p.Val1409Met | |
| XM_005251974.4:c.3679G>A | XP_005252031.1:p.Val1227Met | |
| XM_005251975.4:c.3406G>A | XP_005252032.1:p.Val1136Met | |
| XM_006717096.4:c.5593G>A | XP_006717159.1:p.Val1865Met | |
| XM_006717097.4:c.5044G>A | XP_006717160.1:p.Val1682Met | |
| XM_006717098.4:c.4771G>A | XP_006717161.1:p.Val1591Met | |
| XM_006717101.4:c.3679G>A | XP_006717164.1:p.Val1227Met | |
| XM_011518625.3:c.4771G>A | XP_011516927.1:p.Val1591Met | |
| XM_011518626.3:c.4501G>A | XP_011516928.1:p.Val1501Met | |
| XM_011518628.3:c.3952G>A | XP_011516930.1:p.Val1318Met | |
| XM_011518629.3:c.3952G>A | XP_011516931.1:p.Val1318Met | |
| XM_017014678.2:c.5866G>A | XP_016870167.1:p.Val1956Met | |
| XM_017014679.2:c.5593G>A | XP_016870168.1:p.Val1865Met | |
| XM_017014680.2:c.5590G>A | XP_016870169.1:p.Val1864Met | |
| XM_017014681.2:c.4774G>A | XP_016870170.1:p.Val1592Met | |
| XM_024447530.1:c.5866G>A | XP_024303298.1:p.Val1956Met | |
| NM_002160.4:c.5317G>A MANE Select | NP_002151.2:p.Val1773Met |