Linked Data
ClinVar Variation Id:
2982
dbSNP Id:
rs120074119
gnomAD v2:
11-6415676-G-A
gnomAD v4:
11-6394446-G-A
PubMed:
PMID:1718266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394446G>A , CM000673.2:g.6394446G>A | GRCh38 |
| NC_000011.9:g.6415676G>A , CM000673.1:g.6415676G>A | GRCh37 |
| NC_000011.8:g.6372252G>A | NCBI36 |
| NG_011780.1:g.9022G>A | |
| NG_029615.1:g.29969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1735G>A MANE Select | ENSP00000340409.4:p.Gly579Ser | |
| ENST00000342245.8:c.1735G>A | ENSP00000340409.4:p.Gly579Ser | |
| ENST00000526280.1:c.792G>A | ||
| ENST00000527275.5:c.1732G>A | ENSP00000435350.1:p.Gly578Ser | |
| ENST00000531303.5:c.*586G>A | ENSP00000432625.1:n.*586G>A | |
| ENST00000533123.5:c.*462G>A | ENSP00000435950.1:n.*462G>A | |
| ENST00000534405.5:c.*566G>A | ENSP00000434353.1:n.*566G>A | |
| NM_000543.4:c.1735G>A | NP_000534.3:p.Gly579Ser | |
| NM_001007593.2:c.1732G>A | NP_001007594.2:p.Gly578Ser | |
| XM_005253075.3:c.*228G>A | XP_005253132.1:n.*228G>A | |
| XM_011520303.1:c.1603G>A | XP_011518605.1:p.Gly535Ser | |
| XM_011520304.1:c.*228G>A | XP_011518606.1:n.*228G>A | |
| NM_001318087.1:c.*228G>A | NP_001305016.1:n.*228G>A | |
| NM_001318088.1:c.814G>A | NP_001305017.1:p.Gly272Ser | |
| NM_001365135.1:c.1603G>A | NP_001352064.1:p.Gly535Ser | |
| NR_027400.2:n.1748G>A | ||
| NR_134502.1:n.1287G>A | ||
| XM_011520304.2:c.*228G>A | XP_011518606.1:n.*228G>A | |
| XR_001747940.2:n.1920G>A | ||
| XR_002957158.1:n.2102G>A | ||
| NM_000543.5:c.1735G>A MANE Select | NP_000534.3:p.Gly579Ser | |
| NM_001007593.3:c.1732G>A | NP_001007594.2:p.Gly578Ser | |
| NM_001318087.2:c.*228G>A | NP_001305016.1:n.*228G>A | |
| NM_001318088.2:c.814G>A | NP_001305017.1:p.Gly272Ser | |
| NM_001365135.2:c.1603G>A | NP_001352064.1:p.Gly535Ser | |
| NR_027400.3:n.1688G>A | ||
| NR_134502.2:n.1227G>A |