Linked Data
dbSNP Id:
rs781066956
ExAC:
20:56137716 C / A
gnomAD v2:
20-56137716-C-A
gnomAD v4:
20-57562660-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562660C>A , CM000682.2:g.57562660C>A | GRCh38 |
| NC_000020.10:g.56137716C>A , CM000682.1:g.56137716C>A | GRCh37 |
| NC_000020.9:g.55571122C>A | NCBI36 |
| NG_008205.1:g.6580C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.407-36C>A MANE Select | ENSP00000319814.4:n.407-36C>A | |
| ENST00000319441.5:c.407-36C>A | ENSP00000319814.4:n.407-36C>A | |
| ENST00000467047.1:n.1581C>A | ||
| ENST00000498194.1:n.313C>A | ||
| NM_002591.3:c.407-36C>A | NP_002582.3:n.407-36C>A | |
| XM_011528839.1:c.11-36C>A | XP_011527141.1:n.11-36C>A | |
| XM_024451888.1:c.11-36C>A | XP_024307656.1:n.11-36C>A | |
| NM_002591.4:c.407-36C>A MANE Select | NP_002582.3:n.407-36C>A |