Linked Data
ClinVar Variation Id:
1945282
ClinVar RCV Id:
RCV002640128
dbSNP Id:
rs373988172
ExAC:
20:45216709 G / A
gnomAD v2:
20-45216709-G-A
gnomAD v3:
20-46588070-G-A
gnomAD v4:
20-46588070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46588070G>A , CM000682.2:g.46588070G>A | GRCh38 |
| NC_000020.10:g.45216709G>A , CM000682.1:g.45216709G>A | GRCh37 |
| NC_000020.9:g.44650116G>A | NCBI36 |
| NG_047182.1:g.101416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.1110C>T MANE Select | ENSP00000279027.4:p.Leu370= | |
| ENST00000279027.8:c.1110C>T | ENSP00000279027.4:p.Leu370= | |
| ENST00000290317.9:c.969C>T | ENSP00000290317.5:p.Leu323= | |
| ENST00000413164.6:c.960C>T | ENSP00000415852.2:p.Leu320= | |
| ENST00000420568.5:c.849C>T | ENSP00000395095.1:p.Leu283= | |
| ENST00000450298.5:c.598C>T | ||
| ENST00000464518.1:n.22C>T | ||
| ENST00000468915.5:c.969C>T | ENSP00000417784.1:p.Leu323= | |
| ENST00000472148.5:c.875+1090C>T | ENSP00000420177.1:n.875+1090C>T | |
| ENST00000495082.5:c.969C>T | ENSP00000419621.1:p.Leu323= | |
| NM_001011554.2:c.969C>T | NP_001011554.1:p.Leu323= | |
| NM_001193339.1:c.960C>T | NP_001180268.1:p.Leu320= | |
| NM_001193340.1:c.875+1090C>T | NP_001180269.1:n.875+1090C>T | |
| NM_001193342.1:c.816C>T | NP_001180271.1:p.Leu272= | |
| NM_022829.5:c.1110C>T | NP_073740.2:p.Leu370= | |
| NM_022829.6:c.1110C>T MANE Select | NP_073740.2:p.Leu370= | |
| NM_001011554.3:c.969C>T | NP_001011554.1:p.Leu323= | |
| NM_001193339.2:c.960C>T | NP_001180268.1:p.Leu320= | |
| NM_001193340.2:c.875+1090C>T | NP_001180269.1:n.875+1090C>T | |
| NM_001193342.2:c.816C>T | NP_001180271.1:p.Leu272= |