Linked Data
ClinVar Variation Id:
3124002
ClinVar RCV Id:
RCV004416808
dbSNP Id:
rs144883420
gnomAD v2:
20-3838442-A-G
gnomAD v3:
20-3857795-A-G
gnomAD v4:
20-3857795-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857795A>G , CM000682.2:g.3857795A>G | GRCh38 |
| NC_000020.10:g.3838442A>G , CM000682.1:g.3838442A>G | GRCh37 |
| NC_000020.9:g.3786442A>G | NCBI36 |
| NG_030028.1:g.15997A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.278A>G MANE Select | ENSP00000401980.2:p.Gln93Arg | |
| ENST00000416600.6:c.-132+3054A>G | ENSP00000413749.2:n.-132+3054A>G | |
| ENST00000428216.3:c.278A>G | ENSP00000401980.2:p.Gln93Arg | |
| NM_001206491.1:c.-132+3054A>G | NP_001193420.1:n.-132+3054A>G | |
| NM_020746.4:c.278A>G | NP_065797.2:p.Gln93Arg | |
| NR_037921.1:n.450A>G | ||
| NM_020746.5:c.278A>G MANE Select | NP_065797.2:p.Gln93Arg | |
| NR_037921.2:n.415A>G | ||
| NM_001206491.2:c.-132+3054A>G | NP_001193420.1:n.-132+3054A>G | |
| NM_001385663.1:c.-270A>G | NP_001372592.1:n.-270A>G |