Linked Data
dbSNP Id:
rs373324803
ExAC:
20:56140619 G / A
gnomAD v2:
20-56140619-G-A
gnomAD v3:
20-57565563-G-A
gnomAD v4:
20-57565563-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565563G>A , CM000682.2:g.57565563G>A | GRCh38 |
| NC_000020.10:g.56140619G>A , CM000682.1:g.56140619G>A | GRCh37 |
| NC_000020.9:g.55574025G>A | NCBI36 |
| NG_008205.1:g.9483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1628G>A MANE Select | ENSP00000319814.4:p.Arg543Gln | |
| ENST00000319441.5:c.1628G>A | ENSP00000319814.4:p.Arg543Gln | |
| ENST00000467047.1:n.4270G>A | ||
| NM_002591.3:c.1628G>A | NP_002582.3:p.Arg543Gln | |
| XM_011528839.1:c.1232G>A | XP_011527141.1:p.Arg411Gln | |
| XM_024451888.1:c.1232G>A | XP_024307656.1:p.Arg411Gln | |
| NM_002591.4:c.1628G>A MANE Select | NP_002582.3:p.Arg543Gln |