Linked Data
dbSNP Id:
rs17857295
ExAC:
20:3838441 C / G
gnomAD v2:
20-3838441-C-G
gnomAD v3:
20-3857794-C-G
gnomAD v4:
20-3857794-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857794C>G , CM000682.2:g.3857794C>G | GRCh38 |
| NC_000020.10:g.3838441C>G , CM000682.1:g.3838441C>G | GRCh37 |
| NC_000020.9:g.3786441C>G | NCBI36 |
| NG_030028.1:g.15996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.277C>G MANE Select | ENSP00000401980.2:p.Gln93Glu | |
| ENST00000416600.6:c.-132+3053C>G | ENSP00000413749.2:n.-132+3053C>G | |
| ENST00000428216.3:c.277C>G | ENSP00000401980.2:p.Gln93Glu | |
| NM_001206491.1:c.-132+3053C>G | NP_001193420.1:n.-132+3053C>G | |
| NM_020746.4:c.277C>G | NP_065797.2:p.Gln93Glu | |
| NR_037921.1:n.449C>G | ||
| NM_020746.5:c.277C>G MANE Select | NP_065797.2:p.Gln93Glu | |
| NR_037921.2:n.414C>G | ||
| NM_001206491.2:c.-132+3053C>G | NP_001193420.1:n.-132+3053C>G | |
| NM_001385663.1:c.-271C>G | NP_001372592.1:n.-271C>G |