Linked Data
ClinVar Variation Id:
3053914
ClinVar RCV Id:
RCV003966845
dbSNP Id:
rs119479063
ExAC:
21:47786998 G / A
gnomAD v2:
21-47786998-G-A
gnomAD v3:
21-46367083-G-A
gnomAD v4:
21-46367083-G-A
COSMIC:
COSM1031633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46367083G>A , CM000683.2:g.46367083G>A | GRCh38 |
| NC_000021.8:g.47786998G>A , CM000683.1:g.47786998G>A | GRCh37 |
| NC_000021.7:g.46611426G>A | NCBI36 |
| NG_008961.1:g.47963G>A | |
| NG_008961.2:g.47962G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466474.6:c.*1605G>A | ENSP00000511987.1:n.*1605G>A | |
| ENST00000695525.1:n.3195G>A | ||
| ENST00000695558.1:c.3109G>A | ENSP00000512015.1:p.Glu1037Lys | |
| ENST00000703224.1:c.*2352G>A | ENSP00000515242.1:n.*2352G>A | |
| ENST00000359568.10:c.3109G>A MANE Select | ENSP00000352572.5:p.Glu1037Lys | |
| ENST00000359568.9:c.3109G>A | ENSP00000352572.5:p.Glu1037Lys | |
| ENST00000480896.5:n.3378G>A | ||
| NM_001315529.1:c.2755G>A | NP_001302458.1:p.Glu919Lys | |
| NM_006031.5:c.3109G>A | NP_006022.3:p.Glu1037Lys | |
| XM_005261124.3:c.3109G>A | XP_005261181.1:p.Glu1037Lys | |
| XM_011529593.1:c.3190G>A | XP_011527895.1:p.Glu1064Lys | |
| XM_011529594.1:c.3190G>A | XP_011527896.1:p.Glu1064Lys | |
| XM_005261124.5:c.3109G>A | XP_005261181.1:p.Glu1037Lys | |
| XM_011529594.3:c.3190G>A | XP_011527896.1:p.Glu1064Lys | |
| XM_017028362.2:c.3109G>A | XP_016883851.1:p.Glu1037Lys | |
| XM_017028363.1:c.2755G>A | XP_016883852.1:p.Glu919Lys | |
| XM_024452082.1:c.1993G>A | XP_024307850.1:p.Glu665Lys | |
| XM_024452083.1:c.889G>A | XP_024307851.1:p.Glu297Lys | |
| NM_006031.6:c.3109G>A MANE Select | NP_006022.3:p.Glu1037Lys | |
| NM_001315529.2:c.2755G>A | NP_001302458.1:p.Glu919Lys |