Linked Data
ClinVar Variation Id:
285914
ClinVar RCV Id:
RCV002259773
dbSNP Id:
rs61744410
ExAC:
3:119121217 A / G
gnomAD v2:
3-119121217-A-G
gnomAD v3:
3-119402370-A-G
gnomAD v4:
3-119402370-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119402370A>G , CM000665.2:g.119402370A>G | GRCh38 |
| NC_000003.11:g.119121217A>G , CM000665.1:g.119121217A>G | GRCh37 |
| NC_000003.10:g.120603907A>G | NCBI36 |
| NG_007665.2:g.112998A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264245.9:c.1618A>G MANE Select | ENSP00000264245.4:p.Lys540Glu | |
| ENST00000264245.8:c.1618A>G | ENSP00000264245.4:p.Lys540Glu | |
| NM_020754.3:c.1618A>G | NP_065805.2:p.Lys540Glu | |
| XM_005247671.3:c.1525A>G | XP_005247728.1:p.Lys509Glu | |
| XM_006713714.2:c.1558A>G | XP_006713777.1:p.Lys520Glu | |
| XM_006713714.3:c.1558A>G | XP_006713777.1:p.Lys520Glu | |
| XM_017006955.1:c.1126A>G | XP_016862444.1:p.Lys376Glu | |
| NM_020754.4:c.1618A>G MANE Select | NP_065805.2:p.Lys540Glu |