Linked Data
ClinVar Variation Id:
717187
dbSNP Id:
rs752284879
ExAC:
18:21530003 A / G
gnomAD v2:
18-21530003-A-G
gnomAD v3:
18-23950039-A-G
gnomAD v4:
18-23950039-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23950039A>G , CM000680.2:g.23950039A>G | GRCh38 |
| NC_000018.9:g.21530003A>G , CM000680.1:g.21530003A>G | GRCh37 |
| NC_000018.8:g.19784001A>G | NCBI36 |
| NG_007853.2:g.265442A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.4695A>G MANE Plus Clinical | ENSP00000269217.5:p.Val1565= | |
| ENST00000313654.14:c.9522A>G MANE Select | ENSP00000324532.8:p.Val3174= | |
| ENST00000649721.1:c.6117A>G | ENSP00000497885.1:p.Val2039= | |
| ENST00000269217.10:c.4695A>G | ENSP00000269217.5:p.Val1565= | |
| ENST00000313654.13:c.9522A>G | ENSP00000324532.8:p.Val3174= | |
| ENST00000399516.7:c.9354A>G | ENSP00000382432.2:p.Val3118= | |
| ENST00000587184.5:c.4527A>G | ENSP00000466557.1:p.Val1509= | |
| ENST00000588004.1:c.43A>G | ||
| ENST00000588770.5:n.4100A>G | ||
| NM_000227.4:c.4695A>G | NP_000218.3:p.Val1565= | |
| NM_001127717.2:c.9354A>G | NP_001121189.2:p.Val3118= | |
| NM_001127718.2:c.4527A>G | NP_001121190.2:p.Val1509= | |
| NM_198129.2:c.9522A>G | NP_937762.2:p.Val3174= | |
| XM_011525978.1:c.9549A>G | XP_011524280.1:p.Val3183= | |
| XM_011525979.1:c.9540A>G | XP_011524281.1:p.Val3180= | |
| XM_011525980.1:c.9531A>G | XP_011524282.1:p.Val3177= | |
| XM_011525981.1:c.9417A>G | XP_011524283.1:p.Val3139= | |
| XM_011525982.1:c.9252A>G | XP_011524284.1:p.Val3084= | |
| XM_011525978.2:c.9549A>G | XP_011524280.1:p.Val3183= | |
| XM_011525979.2:c.9540A>G | XP_011524281.1:p.Val3180= | |
| XM_011525980.2:c.9531A>G | XP_011524282.1:p.Val3177= | |
| XM_011525981.2:c.9417A>G | XP_011524283.1:p.Val3139= | |
| XM_011525982.2:c.9252A>G | XP_011524284.1:p.Val3084= | |
| XM_017025743.1:c.7401A>G | XP_016881232.1:p.Val2467= | |
| XM_017025744.1:c.5091A>G | XP_016881233.1:p.Val1697= | |
| XR_001753199.1:n.9790A>G | ||
| NM_000227.5:c.4695A>G | NP_000218.3:p.Val1565= | |
| NM_001127717.3:c.9354A>G | NP_001121189.2:p.Val3118= | |
| NM_001127718.3:c.4527A>G | NP_001121190.2:p.Val1509= | |
| NM_198129.3:c.9522A>G | NP_937762.2:p.Val3174= | |
| NM_000227.6:c.4695A>G MANE Plus Clinical | NP_000218.3:p.Val1565= | |
| NM_001127717.4:c.9354A>G | NP_001121189.2:p.Val3118= | |
| NM_001127718.4:c.4527A>G | NP_001121190.2:p.Val1509= | |
| NM_198129.4:c.9522A>G MANE Select | NP_937762.2:p.Val3174= |