Linked Data
ClinVar Variation Id:
3044202
ClinVar RCV Id:
RCV003939480
dbSNP Id:
rs760624008
ExAC:
21:47786896 A / G
gnomAD v2:
21-47786896-A-G
gnomAD v4:
21-46366981-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46366981A>G , CM000683.2:g.46366981A>G | GRCh38 |
| NC_000021.8:g.47786896A>G , CM000683.1:g.47786896A>G | GRCh37 |
| NC_000021.7:g.46611324A>G | NCBI36 |
| NG_008961.1:g.47861A>G | |
| NG_008961.2:g.47860A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1503A>G | ENSP00000511987.1:n.*1503A>G | |
| ENST00000695525.1:n.3093A>G | ||
| ENST00000695558.1:c.3007A>G | ENSP00000512015.1:p.Lys1003Glu | |
| ENST00000703224.1:c.*2250A>G | ENSP00000515242.1:n.*2250A>G | |
| ENST00000359568.10:c.3007A>G MANE Select | ENSP00000352572.5:p.Lys1003Glu | |
| ENST00000359568.9:c.3007A>G | ENSP00000352572.5:p.Lys1003Glu | |
| ENST00000480896.5:n.3276A>G | ||
| NM_001315529.1:c.2653A>G | NP_001302458.1:p.Lys885Glu | |
| NM_006031.5:c.3007A>G | NP_006022.3:p.Lys1003Glu | |
| XM_005261124.3:c.3007A>G | XP_005261181.1:p.Lys1003Glu | |
| XM_011529593.1:c.3088A>G | XP_011527895.1:p.Lys1030Glu | |
| XM_011529594.1:c.3088A>G | XP_011527896.1:p.Lys1030Glu | |
| XM_005261124.5:c.3007A>G | XP_005261181.1:p.Lys1003Glu | |
| XM_011529594.3:c.3088A>G | XP_011527896.1:p.Lys1030Glu | |
| XM_017028362.2:c.3007A>G | XP_016883851.1:p.Lys1003Glu | |
| XM_017028363.1:c.2653A>G | XP_016883852.1:p.Lys885Glu | |
| XM_024452082.1:c.1891A>G | XP_024307850.1:p.Lys631Glu | |
| XM_024452083.1:c.787A>G | XP_024307851.1:p.Lys263Glu | |
| NM_006031.6:c.3007A>G MANE Select | NP_006022.3:p.Lys1003Glu | |
| NM_001315529.2:c.2653A>G | NP_001302458.1:p.Lys885Glu |