Linked Data
ClinVar Variation Id:
1432617
ClinVar RCV Id:
RCV001943992
dbSNP Id:
rs2141225052
gnomAD v4:
15-36896633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.36896633C>T , CM000677.2:g.36896633C>T | GRCh38 |
| NC_000015.9:g.37188834C>T , CM000677.1:g.37188834C>T | GRCh37 |
| NC_000015.8:g.34976126C>T | NCBI36 |
| NG_029108.1:g.209667G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699898.1:n.214G>A | ||
| ENST00000699899.1:n.214G>A | ||
| ENST00000699900.1:n.264G>A | ||
| ENST00000699901.1:n.354G>A | ||
| ENST00000699902.1:n.194G>A | ||
| ENST00000699903.1:c.992G>A | ENSP00000514679.1:p.Arg331Gln | |
| ENST00000699904.1:c.1133G>A | ENSP00000514680.1:p.Arg378Gln | |
| ENST00000699905.1:n.705G>A | ||
| ENST00000699906.1:n.258G>A | ||
| ENST00000699955.1:c.*242G>A | ENSP00000514715.1:n.*242G>A | |
| ENST00000699956.1:c.593G>A | ENSP00000514716.1:p.Arg198Gln | |
| ENST00000561208.6:c.1031G>A MANE Select | ENSP00000453793.1:p.Arg344Gln | |
| ENST00000314177.12:c.*45G>A | ENSP00000326296.8:n.*45G>A | |
| ENST00000338564.9:c.1031G>A | ENSP00000341400.4:p.Arg344Gln | |
| ENST00000340545.9:c.992G>A | ENSP00000339549.5:p.Arg331Gln | |
| ENST00000397620.6:c.767G>A | ENSP00000380745.2:p.Arg256Gln | |
| ENST00000397624.7:c.767G>A | ENSP00000380749.3:p.Arg256Gln | |
| ENST00000424352.6:c.1031G>A | ENSP00000404185.2:p.Arg344Gln | |
| ENST00000557796.6:c.992G>A | ENSP00000452693.2:p.Arg331Gln | |
| ENST00000558643.1:n.518G>A | ||
| ENST00000559085.5:c.992G>A | ENSP00000453390.1:p.Arg331Gln | |
| ENST00000559371.5:n.357+87G>A | ||
| ENST00000559408.1:n.437G>A | ||
| ENST00000559561.5:c.1031G>A | ENSP00000453497.1:p.Arg344Gln | |
| ENST00000560570.5:c.*592G>A | ENSP00000453481.1:n.*592G>A | |
| ENST00000560702.1:n.1707G>A | ||
| ENST00000561208.5:c.1031G>A | ENSP00000453793.1:p.Arg344Gln | |
| ENST00000561284.5:n.126G>A | ||
| ENST00000607277.5:c.608G>A | ENSP00000475899.1:p.Arg203Gln | |
| NM_001220482.1:c.1031G>A | NP_001207411.1:p.Arg344Gln | |
| NM_002399.3:c.992G>A | NP_002390.1:p.Arg331Gln | |
| NM_170674.4:c.1031G>A | NP_733774.1:p.Arg344Gln | |
| NM_170675.4:c.1031G>A | NP_733775.1:p.Arg344Gln | |
| NM_170676.4:c.1031G>A | NP_733776.1:p.Arg344Gln | |
| NM_170677.4:c.1031G>A | NP_733777.1:p.Arg344Gln | |
| NM_172315.2:c.992G>A | NP_758526.1:p.Arg331Gln | |
| NM_172316.2:c.767G>A | NP_758527.1:p.Arg256Gln | |
| NR_051953.1:n.1628G>A | ||
| XM_006720522.2:c.1031G>A | XP_006720585.1:p.Arg344Gln | |
| XM_006720523.1:c.1028G>A | XP_006720586.1:p.Arg343Gln | |
| XM_006720524.1:c.1028G>A | XP_006720587.1:p.Arg343Gln | |
| XM_006720525.1:c.1028G>A | XP_006720588.1:p.Arg343Gln | |
| XM_006720526.2:c.767G>A | XP_006720589.1:p.Arg256Gln | |
| XM_006720527.2:c.593G>A | XP_006720590.1:p.Arg198Gln | |
| XM_006720528.2:c.593G>A | XP_006720591.1:p.Arg198Gln | |
| XM_006720529.2:c.593G>A | XP_006720592.1:p.Arg198Gln | |
| XM_011521591.1:c.593G>A | XP_011519893.1:p.Arg198Gln | |
| XM_006720526.3:c.767G>A | XP_006720589.1:p.Arg256Gln | |
| XM_006720527.3:c.593G>A | XP_006720590.1:p.Arg198Gln | |
| XM_006720529.3:c.593G>A | XP_006720592.1:p.Arg198Gln | |
| XM_011521591.2:c.593G>A | XP_011519893.1:p.Arg198Gln | |
| XM_017022205.2:c.767G>A | XP_016877694.1:p.Arg256Gln | |
| XM_024449925.1:c.992G>A | XP_024305693.1:p.Arg331Gln | |
| XM_024449926.1:c.992G>A | XP_024305694.1:p.Arg331Gln | |
| XM_024449927.1:c.992G>A | XP_024305695.1:p.Arg331Gln | |
| XM_024449928.1:c.767G>A | XP_024305696.1:p.Arg256Gln | |
| XM_024449929.1:c.992G>A | XP_024305697.1:p.Arg331Gln | |
| XR_001751290.2:n.1389G>A | ||
| XR_002957640.1:n.1342G>A | ||
| XR_002957641.1:n.1342G>A | ||
| NM_170675.5:c.1031G>A MANE Select | NP_733775.1:p.Arg344Gln | |
| NM_001220482.2:c.1031G>A | NP_001207411.1:p.Arg344Gln | |
| NM_170674.5:c.1031G>A | NP_733774.1:p.Arg344Gln | |
| NM_170676.5:c.1031G>A | NP_733776.1:p.Arg344Gln | |
| NM_170677.5:c.1031G>A | NP_733777.1:p.Arg344Gln | |
| NM_172315.3:c.992G>A | NP_758526.1:p.Arg331Gln | |
| NR_051953.2:n.2037G>A | ||
| NM_002399.4:c.992G>A | NP_002390.1:p.Arg331Gln | |
| NM_172316.3:c.767G>A | NP_758527.1:p.Arg256Gln |