Linked Data
ClinVar Variation Id:
385
ClinVar RCV Id:
RCV000000416
dbSNP Id:
rs137854547
ExAC:
20:44526704 G / A
gnomAD v2:
20-44526704-G-A
gnomAD v4:
20-45898065-G-A
PubMed:
PMID:8968752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898065G>A , CM000682.2:g.45898065G>A | GRCh38 |
| NC_000020.10:g.44526704G>A , CM000682.1:g.44526704G>A | GRCh37 |
| NC_000020.9:g.43960111G>A | NCBI36 |
| NG_008291.1:g.12114G>A | |
| NG_012115.1:g.19083C>T | |
| NG_012115.2:g.19083C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480961.3:n.5452G>A | ||
| ENST00000484855.4:n.4070G>A | ||
| ENST00000493522.8:n.1682G>A | ||
| ENST00000606066.3:n.1806G>A | ||
| ENST00000606782.3:n.1436G>A | ||
| ENST00000607187.3:n.4239G>A | ||
| ENST00000607212.3:n.1526G>A | ||
| ENST00000607814.7:n.3066G>A | ||
| ENST00000677755.2:n.1735G>A | ||
| ENST00000678622.2:n.2606G>A | ||
| ENST00000678691.2:n.3563G>A | ||
| ENST00000678988.2:n.2693G>A | ||
| ENST00000679053.2:n.4437G>A | ||
| ENST00000679343.2:n.4776G>A | ||
| ENST00000684198.1:n.1930G>A | ||
| ENST00000372459.7:c.1315G>A | ENSP00000361537.2:p.Gly439Ser | |
| ENST00000372484.8:c.1369G>A | ENSP00000361562.3:p.Gly457Ser | |
| ENST00000484855.3:n.4070G>A | ||
| ENST00000493522.7:n.1682G>A | ||
| ENST00000606066.2:n.1454G>A | ||
| ENST00000607187.2:n.3753G>A | ||
| ENST00000607212.2:n.1526G>A | ||
| ENST00000607482.6:c.1315G>A | ENSP00000475524.2:p.Gly439Ser | |
| ENST00000646241.3:c.1315G>A MANE Select | ENSP00000493613.2:p.Gly439Ser | |
| ENST00000676597.1:c.1154G>A | ENSP00000503904.1:n.1154G>A | |
| ENST00000676967.1:c.*708G>A | ENSP00000502866.1:n.*708G>A | |
| ENST00000677394.1:c.1369G>A | ENSP00000504790.1:p.Gly457Ser | |
| ENST00000677525.1:c.*1138G>A | ENSP00000504197.1:n.*1138G>A | |
| ENST00000677755.1:n.1735G>A | ||
| ENST00000678025.1:c.*1379G>A | ENSP00000503463.1:n.*1379G>A | |
| ENST00000678078.1:c.*878G>A | ENSP00000502993.1:n.*878G>A | |
| ENST00000678217.1:c.2097G>A | ENSP00000504109.1:n.2097G>A | |
| ENST00000678331.1:c.*33G>A | ENSP00000504524.1:n.*33G>A | |
| ENST00000678443.1:c.1225G>A | ENSP00000504006.1:p.Gly409Ser | |
| ENST00000678512.1:n.5876G>A | ||
| ENST00000678622.1:n.2234G>A | ||
| ENST00000678691.1:n.3024G>A | ||
| ENST00000678939.1:c.*654G>A | ENSP00000503404.1:n.*654G>A | |
| ENST00000678988.1:n.2693G>A | ||
| ENST00000679053.1:n.4065G>A | ||
| ENST00000679343.1:n.4397G>A | ||
| ENST00000191018.9:c.1315G>A | ENSP00000191018.5:p.Gly439Ser | |
| ENST00000354880.9:c.1318G>A | ENSP00000346952.4:p.Gly440Ser | |
| ENST00000372459.6:c.1315G>A | ENSP00000361537.2:p.Gly439Ser | |
| ENST00000372484.7:c.1369G>A | ENSP00000361562.3:p.Gly457Ser | |
| ENST00000484855.2:n.1685G>A | ||
| ENST00000606000.1:n.339G>A | ||
| ENST00000606788.5:c.*680G>A | ENSP00000476235.1:n.*680G>A | |
| NM_000308.2:c.1369G>A | NP_000299.2:p.Gly457Ser | |
| NM_000308.3:c.1369G>A | NP_000299.2:p.Gly457Ser | |
| NM_001127695.1:c.1315G>A | NP_001121167.1:p.Gly439Ser | |
| NM_001127695.2:c.1315G>A | NP_001121167.1:p.Gly439Ser | |
| NM_001167594.1:c.1318G>A | NP_001161066.1:p.Gly440Ser | |
| NM_001167594.2:c.1318G>A | NP_001161066.1:p.Gly440Ser | |
| NR_133656.1:n.2558G>A | ||
| NM_000308.4:c.1315G>A MANE Select | NP_000299.3:p.Gly439Ser | |
| NM_001127695.3:c.1315G>A | NP_001121167.1:p.Gly439Ser | |
| NM_001167594.3:c.1264G>A | NP_001161066.2:p.Gly422Ser | |
| NR_133656.2:n.1367G>A |