Linked Data
ClinVar Variation Id:
1628479
ClinVar RCV Id:
RCV002114440
dbSNP Id:
rs1028801487
gnomAD v3:
20-46589189-C-T
gnomAD v4:
20-46589189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46589189C>T , CM000682.2:g.46589189C>T | GRCh38 |
| NC_000020.10:g.45217828C>T , CM000682.1:g.45217828C>T | GRCh37 |
| NC_000020.9:g.44651235C>T | NCBI36 |
| NG_047182.1:g.100297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.987G>A MANE Select | ENSP00000279027.4:p.Arg329= | |
| ENST00000279027.8:c.987G>A | ENSP00000279027.4:p.Arg329= | |
| ENST00000290317.9:c.846G>A | ENSP00000290317.5:p.Arg282= | |
| ENST00000372121.5:c.696G>A | ENSP00000361193.2:p.Arg232= | |
| ENST00000413164.6:c.837G>A | ENSP00000415852.2:p.Arg279= | |
| ENST00000420568.5:c.726G>A | ENSP00000395095.1:p.Arg242= | |
| ENST00000450298.5:c.475G>A | ||
| ENST00000468915.5:c.846G>A | ENSP00000417784.1:p.Arg282= | |
| ENST00000472148.5:c.846G>A | ENSP00000420177.1:p.Arg282= | |
| ENST00000495082.5:c.846G>A | ENSP00000419621.1:p.Arg282= | |
| NM_001011554.2:c.846G>A | NP_001011554.1:p.Arg282= | |
| NM_001193339.1:c.837G>A | NP_001180268.1:p.Arg279= | |
| NM_001193340.1:c.846G>A | NP_001180269.1:p.Arg282= | |
| NM_001193342.1:c.693G>A | NP_001180271.1:p.Arg231= | |
| NM_022829.5:c.987G>A | NP_073740.2:p.Arg329= | |
| NM_022829.6:c.987G>A MANE Select | NP_073740.2:p.Arg329= | |
| NM_001011554.3:c.846G>A | NP_001011554.1:p.Arg282= | |
| NM_001193339.2:c.837G>A | NP_001180268.1:p.Arg279= | |
| NM_001193340.2:c.846G>A | NP_001180269.1:p.Arg282= | |
| NM_001193342.2:c.693G>A | NP_001180271.1:p.Arg231= |