Linked Data
dbSNP Id:
rs199684675
ExAC:
20:3838457 G / A
gnomAD v2:
20-3838457-G-A
gnomAD v3:
20-3857810-G-A
gnomAD v4:
20-3857810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857810G>A , CM000682.2:g.3857810G>A | GRCh38 |
| NC_000020.10:g.3838457G>A , CM000682.1:g.3838457G>A | GRCh37 |
| NC_000020.9:g.3786457G>A | NCBI36 |
| NG_030028.1:g.16012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.292+1G>A MANE Select | ENSP00000401980.2:n.292+1G>A | |
| ENST00000416600.6:c.-132+3069G>A | ENSP00000413749.2:n.-132+3069G>A | |
| ENST00000428216.3:c.292+1G>A | ENSP00000401980.2:n.292+1G>A | |
| NM_001206491.1:c.-132+3069G>A | NP_001193420.1:n.-132+3069G>A | |
| NM_020746.4:c.292+1G>A | NP_065797.2:n.292+1G>A | |
| NR_037921.1:n.464+1G>A | ||
| NM_020746.5:c.292+1G>A MANE Select | NP_065797.2:n.292+1G>A | |
| NR_037921.2:n.429+1G>A | ||
| NM_001206491.2:c.-132+3069G>A | NP_001193420.1:n.-132+3069G>A | |
| NM_001385663.1:c.-256+1G>A | NP_001372592.1:n.-256+1G>A |