Linked Data
ClinVar Variation Id:
718324
ClinVar RCV Id:
RCV000891255
dbSNP Id:
rs11905555
ExAC:
20:3838459 G / A
gnomAD v2:
20-3838459-G-A
gnomAD v3:
20-3857812-G-A
gnomAD v4:
20-3857812-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857812G>A , CM000682.2:g.3857812G>A | GRCh38 |
| NC_000020.10:g.3838459G>A , CM000682.1:g.3838459G>A | GRCh37 |
| NC_000020.9:g.3786459G>A | NCBI36 |
| NG_030028.1:g.16014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.292+3G>A MANE Select | ENSP00000401980.2:n.292+3G>A | |
| ENST00000416600.6:c.-132+3071G>A | ENSP00000413749.2:n.-132+3071G>A | |
| ENST00000428216.3:c.292+3G>A | ENSP00000401980.2:n.292+3G>A | |
| NM_001206491.1:c.-132+3071G>A | NP_001193420.1:n.-132+3071G>A | |
| NM_020746.4:c.292+3G>A | NP_065797.2:n.292+3G>A | |
| NR_037921.1:n.464+3G>A | ||
| NM_020746.5:c.292+3G>A MANE Select | NP_065797.2:n.292+3G>A | |
| NR_037921.2:n.429+3G>A | ||
| NM_001206491.2:c.-132+3071G>A | NP_001193420.1:n.-132+3071G>A | |
| NM_001385663.1:c.-256+3G>A | NP_001372592.1:n.-256+3G>A |