Linked Data
ClinVar Variation Id:
2181598
ClinVar RCV Id:
RCV002606228
dbSNP Id:
rs746027184
ExAC:
20:45212233 G / T
gnomAD v2:
20-45212233-G-T
gnomAD v3:
20-46583594-G-T
gnomAD v4:
20-46583594-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46583594G>T , CM000682.2:g.46583594G>T | GRCh38 |
| NC_000020.10:g.45212233G>T , CM000682.1:g.45212233G>T | GRCh37 |
| NC_000020.9:g.44645640G>T | NCBI36 |
| NG_047182.1:g.105892C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.1197C>A MANE Select | ENSP00000279027.4:p.Leu399= | |
| ENST00000279027.8:c.1197C>A | ENSP00000279027.4:p.Leu399= | |
| ENST00000290317.9:c.1056C>A | ENSP00000290317.5:p.Leu352= | |
| ENST00000413164.6:c.1047C>A | ENSP00000415852.2:p.Leu349= | |
| ENST00000450298.5:c.685C>A | ||
| ENST00000464518.1:n.109C>A | ||
| ENST00000468915.5:c.1056C>A | ENSP00000417784.1:p.Leu352= | |
| ENST00000472148.5:c.951C>A | ENSP00000420177.1:p.Leu317= | |
| ENST00000495082.5:c.1056C>A | ENSP00000419621.1:p.Leu352= | |
| NM_001011554.2:c.1056C>A | NP_001011554.1:p.Leu352= | |
| NM_001193339.1:c.1047C>A | NP_001180268.1:p.Leu349= | |
| NM_001193340.1:c.951C>A | NP_001180269.1:p.Leu317= | |
| NM_001193342.1:c.903C>A | NP_001180271.1:p.Leu301= | |
| NM_022829.5:c.1197C>A | NP_073740.2:p.Leu399= | |
| NM_022829.6:c.1197C>A MANE Select | NP_073740.2:p.Leu399= | |
| NM_001011554.3:c.1056C>A | NP_001011554.1:p.Leu352= | |
| NM_001193339.2:c.1047C>A | NP_001180268.1:p.Leu349= | |
| NM_001193340.2:c.951C>A | NP_001180269.1:p.Leu317= | |
| NM_001193342.2:c.903C>A | NP_001180271.1:p.Leu301= |