Linked Data
ClinVar Variation Id:
338880
dbSNP Id:
rs11552146
ExAC:
20:56137901 G / A
gnomAD v2:
20-56137901-G-A
gnomAD v3:
20-57562845-G-A
gnomAD v4:
20-57562845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562845G>A , CM000682.2:g.57562845G>A | GRCh38 |
| NC_000020.10:g.56137901G>A , CM000682.1:g.56137901G>A | GRCh37 |
| NC_000020.9:g.55571307G>A | NCBI36 |
| NG_008205.1:g.6765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.556G>A MANE Select | ENSP00000319814.4:p.Asp186Asn | |
| ENST00000319441.5:c.556G>A | ENSP00000319814.4:p.Asp186Asn | |
| ENST00000467047.1:n.1766G>A | ||
| ENST00000470051.1:n.12G>A | ||
| ENST00000498194.1:n.498G>A | ||
| NM_002591.3:c.556G>A | NP_002582.3:p.Asp186Asn | |
| XM_011528839.1:c.160G>A | XP_011527141.1:p.Asp54Asn | |
| XM_024451888.1:c.160G>A | XP_024307656.1:p.Asp54Asn | |
| NM_002591.4:c.556G>A MANE Select | NP_002582.3:p.Asp186Asn |