Linked Data
dbSNP Id:
rs766968081
ExAC:
20:56140650 G / A
gnomAD v2:
20-56140650-G-A
gnomAD v3:
20-57565594-G-A
gnomAD v4:
20-57565594-G-A
COSMIC:
COSM2764429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565594G>A , CM000682.2:g.57565594G>A | GRCh38 |
| NC_000020.10:g.56140650G>A , CM000682.1:g.56140650G>A | GRCh37 |
| NC_000020.9:g.55574056G>A | NCBI36 |
| NG_008205.1:g.9514G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1659G>A MANE Select | ENSP00000319814.4:p.Thr553= | |
| ENST00000319441.5:c.1659G>A | ENSP00000319814.4:p.Thr553= | |
| ENST00000467047.1:n.4301G>A | ||
| NM_002591.3:c.1659G>A | NP_002582.3:p.Thr553= | |
| XM_011528839.1:c.1263G>A | XP_011527141.1:p.Thr421= | |
| XM_024451888.1:c.1263G>A | XP_024307656.1:p.Thr421= | |
| NM_002591.4:c.1659G>A MANE Select | NP_002582.3:p.Thr553= |