Linked Data
ClinVar Variation Id:
1161290
ClinVar RCV Id:
RCV001505693
dbSNP Id:
rs1568315293
gnomAD v2:
18-21478803-G-A
gnomAD v3:
18-23898839-G-A
gnomAD v4:
18-23898839-G-A
MyVariant Identifiers:
chr18:g.21478803G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23898839G>A , CM000680.2:g.23898839G>A | GRCh38 |
| NC_000018.9:g.21478803G>A , CM000680.1:g.21478803G>A | GRCh37 |
| NC_000018.8:g.19732801G>A | NCBI36 |
| NG_007853.2:g.214242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.888G>A MANE Plus Clinical | ENSP00000269217.5:p.Leu296= | |
| ENST00000313654.14:c.5715G>A MANE Select | ENSP00000324532.8:p.Leu1905= | |
| ENST00000649721.1:c.2607G>A | ENSP00000497885.1:p.Leu869= | |
| ENST00000269217.10:c.888G>A | ENSP00000269217.5:p.Leu296= | |
| ENST00000313654.13:c.5715G>A | ENSP00000324532.8:p.Leu1905= | |
| ENST00000399516.7:c.5715G>A | ENSP00000382432.2:p.Leu1905= | |
| ENST00000586709.1:n.103G>A | ||
| ENST00000586751.5:c.493G>A | ||
| ENST00000587184.5:c.888G>A | ENSP00000466557.1:p.Leu296= | |
| ENST00000588770.5:n.293G>A | ||
| NM_000227.4:c.888G>A | NP_000218.3:p.Leu296= | |
| NM_001127717.2:c.5715G>A | NP_001121189.2:p.Leu1905= | |
| NM_001127718.2:c.888G>A | NP_001121190.2:p.Leu296= | |
| NM_198129.2:c.5715G>A | NP_937762.2:p.Leu1905= | |
| XM_011525978.1:c.5742G>A | XP_011524280.1:p.Leu1914= | |
| XM_011525979.1:c.5733G>A | XP_011524281.1:p.Leu1911= | |
| XM_011525980.1:c.5724G>A | XP_011524282.1:p.Leu1908= | |
| XM_011525981.1:c.5610G>A | XP_011524283.1:p.Leu1870= | |
| XM_011525982.1:c.5742G>A | XP_011524284.1:p.Leu1914= | |
| XM_011525978.2:c.5742G>A | XP_011524280.1:p.Leu1914= | |
| XM_011525979.2:c.5733G>A | XP_011524281.1:p.Leu1911= | |
| XM_011525980.2:c.5724G>A | XP_011524282.1:p.Leu1908= | |
| XM_011525981.2:c.5610G>A | XP_011524283.1:p.Leu1870= | |
| XM_011525982.2:c.5742G>A | XP_011524284.1:p.Leu1914= | |
| XM_017025743.1:c.3594G>A | XP_016881232.1:p.Leu1198= | |
| XM_017025744.1:c.1284G>A | XP_016881233.1:p.Leu428= | |
| XR_001753199.1:n.5983G>A | ||
| NM_000227.5:c.888G>A | NP_000218.3:p.Leu296= | |
| NM_001127717.3:c.5715G>A | NP_001121189.2:p.Leu1905= | |
| NM_001127718.3:c.888G>A | NP_001121190.2:p.Leu296= | |
| NM_198129.3:c.5715G>A | NP_937762.2:p.Leu1905= | |
| NM_000227.6:c.888G>A MANE Plus Clinical | NP_000218.3:p.Leu296= | |
| NM_001127717.4:c.5715G>A | NP_001121189.2:p.Leu1905= | |
| NM_001127718.4:c.888G>A | NP_001121190.2:p.Leu296= | |
| NM_198129.4:c.5715G>A MANE Select | NP_937762.2:p.Leu1905= |