Linked Data
ClinVar Variation Id:
2774061
dbSNP Id:
rs1484036219
gnomAD v2:
1-55525204-G-A
gnomAD v3:
1-55059531-G-A
gnomAD v4:
1-55059531-G-A
COSMIC:
COSM5728664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059531G>A , CM000663.2:g.55059531G>A | GRCh38 |
| NC_000001.10:g.55525204G>A , CM000663.1:g.55525204G>A | GRCh37 |
| NC_000001.9:g.55297792G>A | NCBI36 |
| NG_009061.1:g.24985G>A , LRG_275:g.24985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1549G>A | ENSP00000501161.2:p.Gly517Ser | |
| ENST00000710286.1:c.1906G>A | ENSP00000518176.1:p.Gly636Ser | |
| ENST00000673903.1:c.1174G>A | ENSP00000501257.1:p.Gly392Ser | |
| ENST00000673913.1:c.289G>A | ENSP00000501161.1:p.Gly97Ser | |
| ENST00000302118.5:c.1549G>A MANE Select | ENSP00000303208.5:p.Gly517Ser | |
| ENST00000490692.1:n.2227+884G>A | ||
| NM_174936.3:c.1549G>A , LRG_275t1:c.1549G>A | NP_777596.2:p.Gly517Ser | |
| NR_110451.1:n.1156G>A | ||
| XM_011541193.1:c.670G>A | XP_011539495.1:p.Gly224Ser | |
| NM_174936.4:c.1549G>A MANE Select | NP_777596.2:p.Gly517Ser | |
| NR_110451.2:n.1156G>A |