Linked Data
ClinVar Variation Id:
128519
ClinVar RCV Id:
RCV000116489
dbSNP Id:
rs1053338
ExAC:
3:63967900 A / G
gnomAD v2:
3-63967900-A-G
gnomAD v3:
3-63982224-A-G
gnomAD v4:
3-63982224-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.63982224A>G , CM000665.2:g.63982224A>G | GRCh38 |
| NC_000003.11:g.63967900A>G , CM000665.1:g.63967900A>G | GRCh37 |
| NC_000003.10:g.63942940A>G | NCBI36 |
| NG_008227.1:g.122668A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522345.2:c.791A>G | ENSP00000428067.2:p.Lys264Arg | |
| ENST00000674280.1:c.791A>G MANE Select | ENSP00000501377.1:p.Lys264Arg | |
| ENST00000295900.10:c.791A>G | ENSP00000295900.6:p.Lys264Arg | |
| ENST00000466529.1:n.38A>G | ||
| ENST00000474112.5:n.1344A>G | ||
| ENST00000484332.1:c.356A>G | ENSP00000428277.1:p.Lys119Arg | |
| ENST00000487717.5:c.791A>G | ENSP00000420234.1:p.Lys264Arg | |
| ENST00000488239.1:n.386A>G | ||
| ENST00000538065.5:c.791A>G | ENSP00000439585.1:p.Lys264Arg | |
| NM_000333.3:c.791A>G | NP_000324.1:p.Lys264Arg | |
| NM_001128149.2:c.356A>G | NP_001121621.2:p.Lys119Arg | |
| NM_001177387.1:c.791A>G | NP_001170858.1:p.Lys264Arg | |
| NM_000333.4:c.791A>G | NP_000324.1:p.Lys264Arg | |
| NM_001128149.3:c.356A>G | NP_001121621.2:p.Lys119Arg | |
| NM_001377405.1:c.791A>G MANE Select | NP_001364334.1:p.Lys264Arg | |
| NM_001377406.1:c.791A>G | NP_001364335.1:p.Lys264Arg |