Linked Data
ClinVar Variation Id:
265983
ClinVar RCV Id:
RCV000256371
dbSNP Id:
rs886039870
gnomAD v2:
15-48521504-G-C
gnomAD v4:
15-48229307-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48229307G>C , CM000677.2:g.48229307G>C | GRCh38 |
| NC_000015.9:g.48521504G>C , CM000677.1:g.48521504G>C | GRCh37 |
| NC_000015.8:g.46308796G>C | NCBI36 |
| NG_021301.1:g.28007G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.843G>C | ENSP00000508901.1:p.Glu281Asp | |
| ENST00000380993.8:c.843G>C MANE Select | ENSP00000370381.3:p.Glu281Asp | |
| ENST00000646012.1:c.981G>C | ENSP00000495813.1:p.Glu327Asp | |
| ENST00000647232.1:c.843G>C | ENSP00000493875.1:p.Glu281Asp | |
| ENST00000647546.1:c.843G>C | ENSP00000495332.1:p.Glu281Asp | |
| ENST00000330289.10:c.843G>C | ENSP00000331550.6:p.Glu281Asp | |
| ENST00000380993.7:c.843G>C | ENSP00000370381.3:p.Glu281Asp | |
| ENST00000396577.7:c.843G>C | ENSP00000379822.3:p.Glu281Asp | |
| ENST00000558252.5:n.4966G>C | ||
| ENST00000558405.5:c.843G>C | ENSP00000453409.1:p.Glu281Asp | |
| ENST00000559641.5:c.282G>C | ENSP00000453230.1:p.Glu94Asp | |
| ENST00000559723.2:n.216G>C | ||
| ENST00000560692.5:n.4982G>C | ||
| ENST00000561127.5:c.282G>C | ENSP00000453602.2:p.Glu94Asp | |
| NM_000338.2:c.843G>C | NP_000329.2:p.Glu281Asp | |
| NM_001184832.1:c.843G>C | NP_001171761.1:p.Glu281Asp | |
| XM_005254605.1:c.939G>C | XP_005254662.1:p.Glu313Asp | |
| XM_005254606.1:c.843G>C | XP_005254663.1:p.Glu281Asp | |
| XM_006720656.1:c.939G>C | XP_006720719.1:p.Glu313Asp | |
| XR_931896.1:n.1155G>C | ||
| XR_932203.1:n.229+649C>G | ||
| XR_932204.1:n.222+649C>G | ||
| XM_005254606.2:c.843G>C | XP_005254663.1:p.Glu281Asp | |
| XR_001751524.2:n.230+649C>G | ||
| XR_001751525.1:n.230+649C>G | ||
| XR_002957762.1:n.230+649C>G | ||
| XR_932204.3:n.224+649C>G | ||
| NM_000338.3:c.843G>C MANE Select | NP_000329.2:p.Glu281Asp | |
| NM_001184832.2:c.843G>C | NP_001171761.1:p.Glu281Asp | |
| NM_001384136.1:c.843G>C | NP_001371065.1:p.Glu281Asp |