Linked Data
ClinVar Variation Id:
2800372
ClinVar RCV Id:
RCV003671484
dbSNP Id:
rs1173334534
gnomAD v4:
21-46366968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46366968G>A , CM000683.2:g.46366968G>A | GRCh38 |
| NC_000021.8:g.47786883G>A , CM000683.1:g.47786883G>A | GRCh37 |
| NC_000021.7:g.46611311G>A | NCBI36 |
| NG_008961.1:g.47848G>A | |
| NG_008961.2:g.47847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1490G>A | ENSP00000511987.1:n.*1490G>A | |
| ENST00000695525.1:n.3080G>A | ||
| ENST00000695558.1:c.2994G>A | ENSP00000512015.1:p.Glu998= | |
| ENST00000703224.1:c.*2237G>A | ENSP00000515242.1:n.*2237G>A | |
| ENST00000359568.10:c.2994G>A MANE Select | ENSP00000352572.5:p.Glu998= | |
| ENST00000359568.9:c.2994G>A | ENSP00000352572.5:p.Glu998= | |
| ENST00000480896.5:n.3263G>A | ||
| NM_001315529.1:c.2640G>A | NP_001302458.1:p.Glu880= | |
| NM_006031.5:c.2994G>A | NP_006022.3:p.Glu998= | |
| XM_005261124.3:c.2994G>A | XP_005261181.1:p.Glu998= | |
| XM_011529593.1:c.3075G>A | XP_011527895.1:p.Glu1025= | |
| XM_011529594.1:c.3075G>A | XP_011527896.1:p.Glu1025= | |
| XM_005261124.5:c.2994G>A | XP_005261181.1:p.Glu998= | |
| XM_011529594.3:c.3075G>A | XP_011527896.1:p.Glu1025= | |
| XM_017028362.2:c.2994G>A | XP_016883851.1:p.Glu998= | |
| XM_017028363.1:c.2640G>A | XP_016883852.1:p.Glu880= | |
| XM_024452082.1:c.1878G>A | XP_024307850.1:p.Glu626= | |
| XM_024452083.1:c.774G>A | XP_024307851.1:p.Glu258= | |
| NM_006031.6:c.2994G>A MANE Select | NP_006022.3:p.Glu998= | |
| NM_001315529.2:c.2640G>A | NP_001302458.1:p.Glu880= |