Linked Data
ClinVar Variation Id:
3117429
ClinVar RCV Id:
RCV004407261
dbSNP Id:
rs769473841
ExAC:
18:21485519 A / G
gnomAD v2:
18-21485519-A-G
gnomAD v3:
18-23905555-A-G
gnomAD v4:
18-23905555-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23905555A>G , CM000680.2:g.23905555A>G | GRCh38 |
| NC_000018.9:g.21485519A>G , CM000680.1:g.21485519A>G | GRCh37 |
| NC_000018.8:g.19739517A>G | NCBI36 |
| NG_007853.2:g.220958A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1822A>G MANE Plus Clinical | ENSP00000269217.5:p.Lys608Glu | |
| ENST00000313654.14:c.6649A>G MANE Select | ENSP00000324532.8:p.Lys2217Glu | |
| ENST00000649721.1:c.3541A>G | ENSP00000497885.1:p.Lys1181Glu | |
| ENST00000269217.10:c.1822A>G | ENSP00000269217.5:p.Lys608Glu | |
| ENST00000313654.13:c.6649A>G | ENSP00000324532.8:p.Lys2217Glu | |
| ENST00000399516.7:c.6481A>G | ENSP00000382432.2:p.Lys2161Glu | |
| ENST00000586751.5:c.1427A>G | ||
| ENST00000587184.5:c.1654A>G | ENSP00000466557.1:p.Lys552Glu | |
| ENST00000588770.5:n.1227A>G | ||
| NM_000227.4:c.1822A>G | NP_000218.3:p.Lys608Glu | |
| NM_001127717.2:c.6481A>G | NP_001121189.2:p.Lys2161Glu | |
| NM_001127718.2:c.1654A>G | NP_001121190.2:p.Lys552Glu | |
| NM_198129.2:c.6649A>G | NP_937762.2:p.Lys2217Glu | |
| XM_011525978.1:c.6676A>G | XP_011524280.1:p.Lys2226Glu | |
| XM_011525979.1:c.6667A>G | XP_011524281.1:p.Lys2223Glu | |
| XM_011525980.1:c.6658A>G | XP_011524282.1:p.Lys2220Glu | |
| XM_011525981.1:c.6544A>G | XP_011524283.1:p.Lys2182Glu | |
| XM_011525982.1:c.6676A>G | XP_011524284.1:p.Lys2226Glu | |
| XM_011525978.2:c.6676A>G | XP_011524280.1:p.Lys2226Glu | |
| XM_011525979.2:c.6667A>G | XP_011524281.1:p.Lys2223Glu | |
| XM_011525980.2:c.6658A>G | XP_011524282.1:p.Lys2220Glu | |
| XM_011525981.2:c.6544A>G | XP_011524283.1:p.Lys2182Glu | |
| XM_011525982.2:c.6676A>G | XP_011524284.1:p.Lys2226Glu | |
| XM_017025743.1:c.4528A>G | XP_016881232.1:p.Lys1510Glu | |
| XM_017025744.1:c.2218A>G | XP_016881233.1:p.Lys740Glu | |
| XR_001753199.1:n.6917A>G | ||
| NM_000227.5:c.1822A>G | NP_000218.3:p.Lys608Glu | |
| NM_001127717.3:c.6481A>G | NP_001121189.2:p.Lys2161Glu | |
| NM_001127718.3:c.1654A>G | NP_001121190.2:p.Lys552Glu | |
| NM_198129.3:c.6649A>G | NP_937762.2:p.Lys2217Glu | |
| NM_000227.6:c.1822A>G MANE Plus Clinical | NP_000218.3:p.Lys608Glu | |
| NM_001127717.4:c.6481A>G | NP_001121189.2:p.Lys2161Glu | |
| NM_001127718.4:c.1654A>G | NP_001121190.2:p.Lys552Glu | |
| NM_198129.4:c.6649A>G MANE Select | NP_937762.2:p.Lys2217Glu |