Linked Data
ClinVar Variation Id:
766020
ClinVar RCV Id:
RCV000944504
dbSNP Id:
rs151202077
gnomAD v4:
18-23876344-G-A
MyVariant Identifiers:
chr18:g.21456308G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876344G>A , CM000680.2:g.23876344G>A | GRCh38 |
| NC_000018.9:g.21456308G>A , CM000680.1:g.21456308G>A | GRCh37 |
| NC_000018.8:g.19710306G>A | NCBI36 |
| NG_007853.2:g.191747G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.222G>A MANE Plus Clinical | ENSP00000269217.5:p.Arg74= | |
| ENST00000313654.14:c.5049G>A MANE Select | ENSP00000324532.8:p.Arg1683= | |
| ENST00000649721.1:c.1941G>A | ENSP00000497885.1:p.Arg647= | |
| ENST00000269217.10:c.222G>A | ENSP00000269217.5:p.Arg74= | |
| ENST00000313654.13:c.5049G>A | ENSP00000324532.8:p.Arg1683= | |
| ENST00000399516.7:c.5049G>A | ENSP00000382432.2:p.Arg1683= | |
| ENST00000587184.5:c.222G>A | ENSP00000466557.1:p.Arg74= | |
| NM_000227.4:c.222G>A | NP_000218.3:p.Arg74= | |
| NM_001127717.2:c.5049G>A | NP_001121189.2:p.Arg1683= | |
| NM_001127718.2:c.222G>A | NP_001121190.2:p.Arg74= | |
| NM_198129.2:c.5049G>A | NP_937762.2:p.Arg1683= | |
| XM_011525978.1:c.5076G>A | XP_011524280.1:p.Arg1692= | |
| XM_011525979.1:c.5067G>A | XP_011524281.1:p.Arg1689= | |
| XM_011525980.1:c.5058G>A | XP_011524282.1:p.Arg1686= | |
| XM_011525981.1:c.4944G>A | XP_011524283.1:p.Arg1648= | |
| XM_011525982.1:c.5076G>A | XP_011524284.1:p.Arg1692= | |
| XM_011525978.2:c.5076G>A | XP_011524280.1:p.Arg1692= | |
| XM_011525979.2:c.5067G>A | XP_011524281.1:p.Arg1689= | |
| XM_011525980.2:c.5058G>A | XP_011524282.1:p.Arg1686= | |
| XM_011525981.2:c.4944G>A | XP_011524283.1:p.Arg1648= | |
| XM_011525982.2:c.5076G>A | XP_011524284.1:p.Arg1692= | |
| XM_017025743.1:c.2928G>A | XP_016881232.1:p.Arg976= | |
| XM_017025744.1:c.618G>A | XP_016881233.1:p.Arg206= | |
| XR_001753199.1:n.5317G>A | ||
| NM_000227.5:c.222G>A | NP_000218.3:p.Arg74= | |
| NM_001127717.3:c.5049G>A | NP_001121189.2:p.Arg1683= | |
| NM_001127718.3:c.222G>A | NP_001121190.2:p.Arg74= | |
| NM_198129.3:c.5049G>A | NP_937762.2:p.Arg1683= | |
| NM_000227.6:c.222G>A MANE Plus Clinical | NP_000218.3:p.Arg74= | |
| NM_001127717.4:c.5049G>A | NP_001121189.2:p.Arg1683= | |
| NM_001127718.4:c.222G>A | NP_001121190.2:p.Arg74= | |
| NM_198129.4:c.5049G>A MANE Select | NP_937762.2:p.Arg1683= |