Linked Data
ClinVar Variation Id:
285887
dbSNP Id:
rs747229048
ExAC:
15:48522630 G / A
gnomAD v2:
15-48522630-G-A
gnomAD v3:
15-48230433-G-A
gnomAD v4:
15-48230433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48230433G>A , CM000677.2:g.48230433G>A | GRCh38 |
| NC_000015.9:g.48522630G>A , CM000677.1:g.48522630G>A | GRCh37 |
| NC_000015.8:g.46309922G>A | NCBI36 |
| NG_021301.1:g.29133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686073.1:c.905G>A | ENSP00000508901.1:p.Arg302Gln | |
| ENST00000380993.8:c.905G>A MANE Select | ENSP00000370381.3:p.Arg302Gln | |
| ENST00000646012.1:c.1043G>A | ENSP00000495813.1:p.Arg348Gln | |
| ENST00000647232.1:c.905G>A | ENSP00000493875.1:p.Arg302Gln | |
| ENST00000647546.1:c.905G>A | ENSP00000495332.1:p.Arg302Gln | |
| ENST00000330289.10:c.905G>A | ENSP00000331550.6:p.Arg302Gln | |
| ENST00000380993.7:c.905G>A | ENSP00000370381.3:p.Arg302Gln | |
| ENST00000396577.7:c.905G>A | ENSP00000379822.3:p.Arg302Gln | |
| ENST00000558252.5:n.5028G>A | ||
| ENST00000558405.5:c.905G>A | ENSP00000453409.1:p.Arg302Gln | |
| ENST00000559641.5:c.344G>A | ENSP00000453230.1:p.Arg115Gln | |
| ENST00000559723.2:n.278G>A | ||
| ENST00000560692.5:n.5044G>A | ||
| NM_000338.2:c.905G>A | NP_000329.2:p.Arg302Gln | |
| NM_001184832.1:c.905G>A | NP_001171761.1:p.Arg302Gln | |
| XM_005254605.1:c.1001G>A | XP_005254662.1:p.Arg334Gln | |
| XM_005254606.1:c.905G>A | XP_005254663.1:p.Arg302Gln | |
| XM_006720656.1:c.1001G>A | XP_006720719.1:p.Arg334Gln | |
| XR_931896.1:n.1217G>A | ||
| XR_932203.1:n.4C>T | ||
| XM_005254606.2:c.905G>A | XP_005254663.1:p.Arg302Gln | |
| XR_001751524.2:n.5C>T | ||
| XR_001751525.1:n.5C>T | ||
| XR_002957762.1:n.5C>T | ||
| XR_932204.3:n.2C>T | ||
| NM_000338.3:c.905G>A MANE Select | NP_000329.2:p.Arg302Gln | |
| NM_001184832.2:c.905G>A | NP_001171761.1:p.Arg302Gln | |
| NM_001384136.1:c.905G>A | NP_001371065.1:p.Arg302Gln |