Linked Data
ClinVar Variation Id:
1551061
ClinVar RCV Id:
RCV002192164
dbSNP Id:
rs886053673
gnomAD v4:
18-23905596-C-A
MyVariant Identifiers:
chr18:g.21485560C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23905596C>A , CM000680.2:g.23905596C>A | GRCh38 |
| NC_000018.9:g.21485560C>A , CM000680.1:g.21485560C>A | GRCh37 |
| NC_000018.8:g.19739558C>A | NCBI36 |
| NG_007853.2:g.220999C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1863C>A MANE Plus Clinical | ENSP00000269217.5:p.Ala621= | |
| ENST00000313654.14:c.6690C>A MANE Select | ENSP00000324532.8:p.Ala2230= | |
| ENST00000649721.1:c.3582C>A | ENSP00000497885.1:p.Ala1194= | |
| ENST00000269217.10:c.1863C>A | ENSP00000269217.5:p.Ala621= | |
| ENST00000313654.13:c.6690C>A | ENSP00000324532.8:p.Ala2230= | |
| ENST00000399516.7:c.6522C>A | ENSP00000382432.2:p.Ala2174= | |
| ENST00000586751.5:c.1468C>A | ||
| ENST00000587184.5:c.1695C>A | ENSP00000466557.1:p.Ala565= | |
| ENST00000588770.5:n.1268C>A | ||
| NM_000227.4:c.1863C>A | NP_000218.3:p.Ala621= | |
| NM_001127717.2:c.6522C>A | NP_001121189.2:p.Ala2174= | |
| NM_001127718.2:c.1695C>A | NP_001121190.2:p.Ala565= | |
| NM_198129.2:c.6690C>A | NP_937762.2:p.Ala2230= | |
| XM_011525978.1:c.6717C>A | XP_011524280.1:p.Ala2239= | |
| XM_011525979.1:c.6708C>A | XP_011524281.1:p.Ala2236= | |
| XM_011525980.1:c.6699C>A | XP_011524282.1:p.Ala2233= | |
| XM_011525981.1:c.6585C>A | XP_011524283.1:p.Ala2195= | |
| XM_011525982.1:c.6717C>A | XP_011524284.1:p.Ala2239= | |
| XM_011525978.2:c.6717C>A | XP_011524280.1:p.Ala2239= | |
| XM_011525979.2:c.6708C>A | XP_011524281.1:p.Ala2236= | |
| XM_011525980.2:c.6699C>A | XP_011524282.1:p.Ala2233= | |
| XM_011525981.2:c.6585C>A | XP_011524283.1:p.Ala2195= | |
| XM_011525982.2:c.6717C>A | XP_011524284.1:p.Ala2239= | |
| XM_017025743.1:c.4569C>A | XP_016881232.1:p.Ala1523= | |
| XM_017025744.1:c.2259C>A | XP_016881233.1:p.Ala753= | |
| XR_001753199.1:n.6958C>A | ||
| NM_000227.5:c.1863C>A | NP_000218.3:p.Ala621= | |
| NM_001127717.3:c.6522C>A | NP_001121189.2:p.Ala2174= | |
| NM_001127718.3:c.1695C>A | NP_001121190.2:p.Ala565= | |
| NM_198129.3:c.6690C>A | NP_937762.2:p.Ala2230= | |
| NM_000227.6:c.1863C>A MANE Plus Clinical | NP_000218.3:p.Ala621= | |
| NM_001127717.4:c.6522C>A | NP_001121189.2:p.Ala2174= | |
| NM_001127718.4:c.1695C>A | NP_001121190.2:p.Ala565= | |
| NM_198129.4:c.6690C>A MANE Select | NP_937762.2:p.Ala2230= |