Linked Data
dbSNP Id:
rs752355312
ExAC:
11:118963118 C / T
gnomAD v2:
11-118963118-C-T
gnomAD v4:
11-119092408-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092408C>T , CM000673.2:g.119092408C>T | GRCh38 |
| NC_000011.9:g.118963118C>T , CM000673.1:g.118963118C>T | GRCh37 |
| NC_000011.8:g.118468328C>T | NCBI36 |
| NG_008093.1:g.12532C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.491C>T | ENSP00000509288.1:p.Ala164Val | |
| ENST00000691144.1:n.2637C>T | ||
| ENST00000691249.1:n.1480C>T | ||
| ENST00000442944.7:c.638C>T | ENSP00000392041.3:p.Ala213Val | |
| ENST00000536813.6:c.605C>T | ENSP00000438726.2:p.Ala202Val | |
| ENST00000640813.1:c.466C>T | ENSP00000491061.1:p.Pro156Ser | |
| ENST00000648026.1:c.550C>T | ENSP00000498044.1:p.Pro184Ser | |
| ENST00000648374.1:c.605C>T | ENSP00000497255.1:p.Ala202Val | |
| ENST00000649823.1:n.1113C>T | ||
| ENST00000650101.1:c.587C>T | ENSP00000496970.1:p.Ala196Val | |
| ENST00000650307.1:n.1482C>T | ||
| ENST00000652429.1:c.656C>T MANE Select | ENSP00000498786.1:p.Ala219Val | |
| ENST00000278715.7:c.656C>T | ENSP00000278715.3:p.Ala219Val | |
| ENST00000392841.1:c.605C>T | ENSP00000376584.1:p.Ala202Val | |
| ENST00000442944.6:c.605C>T | ENSP00000392041.2:p.Ala202Val | |
| ENST00000537841.5:c.605C>T | ENSP00000444730.1:p.Ala202Val | |
| ENST00000542044.5:n.1101C>T | ||
| ENST00000542729.5:c.600+245C>T | ENSP00000443058.1:n.600+245C>T | |
| ENST00000543090.5:c.563C>T | ENSP00000445429.1:p.Ala188Val | |
| ENST00000543543.5:n.1131C>T | ||
| ENST00000544182.1:n.871C>T | ||
| ENST00000544387.5:c.651+245C>T | ENSP00000438424.1:n.651+245C>T | |
| ENST00000545621.5:c.*791C>T | ENSP00000444849.1:n.*791C>T | |
| ENST00000546226.5:n.1184C>T | ||
| NM_000190.3:c.656C>T | NP_000181.2:p.Ala219Val | |
| NM_001024382.1:c.605C>T | NP_001019553.1:p.Ala202Val | |
| NM_001258208.1:c.651+245C>T | NP_001245137.1:n.651+245C>T | |
| NM_001258209.1:c.600+245C>T | NP_001245138.1:n.600+245C>T | |
| XM_005271531.1:c.605C>T | XP_005271588.1:p.Ala202Val | |
| XM_005271532.1:c.605C>T | XP_005271589.1:p.Ala202Val | |
| XM_005271533.2:c.602C>T | XP_005271590.1:p.Ala201Val | |
| XM_011542796.1:c.491C>T | XP_011541098.1:p.Ala164Val | |
| NM_000190.4:c.656C>T MANE Select | NP_000181.2:p.Ala219Val | |
| NM_001024382.2:c.605C>T | NP_001019553.1:p.Ala202Val | |
| XM_005271533.3:c.602C>T | XP_005271590.1:p.Ala201Val | |
| XM_017017629.1:c.605C>T | XP_016873118.1:p.Ala202Val | |
| XM_024448460.1:c.597+245C>T | XP_024304228.1:n.597+245C>T | |
| NM_001258208.2:c.651+245C>T | NP_001245137.1:n.651+245C>T | |
| NM_001258209.2:c.600+245C>T | NP_001245138.1:n.600+245C>T |