Linked Data
ClinVar Variation Id:
2912177
ClinVar RCV Id:
RCV003598705
dbSNP Id:
rs745656998
ExAC:
20:44526682 G / A
gnomAD v2:
20-44526682-G-A
gnomAD v4:
20-45898043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898043G>A , CM000682.2:g.45898043G>A | GRCh38 |
| NC_000020.10:g.44526682G>A , CM000682.1:g.44526682G>A | GRCh37 |
| NC_000020.9:g.43960089G>A | NCBI36 |
| NG_008291.1:g.12092G>A | |
| NG_012115.1:g.19105C>T | |
| NG_012115.2:g.19105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.5430G>A | ||
| ENST00000484855.4:n.4048G>A | ||
| ENST00000493522.8:n.1660G>A | ||
| ENST00000606066.3:n.1784G>A | ||
| ENST00000606782.3:n.1414G>A | ||
| ENST00000607187.3:n.4217G>A | ||
| ENST00000607212.3:n.1504G>A | ||
| ENST00000607814.7:n.3044G>A | ||
| ENST00000677755.2:n.1713G>A | ||
| ENST00000678622.2:n.2584G>A | ||
| ENST00000678691.2:n.3541G>A | ||
| ENST00000678988.2:n.2671G>A | ||
| ENST00000679053.2:n.4415G>A | ||
| ENST00000679343.2:n.4754G>A | ||
| ENST00000684198.1:n.1908G>A | ||
| ENST00000372459.7:c.1293G>A | ENSP00000361537.2:p.Gly431= | |
| ENST00000372484.8:c.1347G>A | ENSP00000361562.3:p.Gly449= | |
| ENST00000484855.3:n.4048G>A | ||
| ENST00000493522.7:n.1660G>A | ||
| ENST00000606066.2:n.1432G>A | ||
| ENST00000607187.2:n.3731G>A | ||
| ENST00000607212.2:n.1504G>A | ||
| ENST00000607482.6:c.1293G>A | ENSP00000475524.2:p.Gly431= | |
| ENST00000646241.3:c.1293G>A MANE Select | ENSP00000493613.2:p.Gly431= | |
| ENST00000676597.1:c.1132G>A | ENSP00000503904.1:n.1132G>A | |
| ENST00000676967.1:c.*686G>A | ENSP00000502866.1:n.*686G>A | |
| ENST00000677394.1:c.1347G>A | ENSP00000504790.1:p.Gly449= | |
| ENST00000677525.1:c.*1116G>A | ENSP00000504197.1:n.*1116G>A | |
| ENST00000677755.1:n.1713G>A | ||
| ENST00000678025.1:c.*1357G>A | ENSP00000503463.1:n.*1357G>A | |
| ENST00000678078.1:c.*856G>A | ENSP00000502993.1:n.*856G>A | |
| ENST00000678217.1:c.2075G>A | ENSP00000504109.1:n.2075G>A | |
| ENST00000678331.1:c.*11G>A | ENSP00000504524.1:n.*11G>A | |
| ENST00000678443.1:c.1203G>A | ENSP00000504006.1:p.Gly401= | |
| ENST00000678512.1:n.5854G>A | ||
| ENST00000678622.1:n.2212G>A | ||
| ENST00000678691.1:n.3002G>A | ||
| ENST00000678939.1:c.*632G>A | ENSP00000503404.1:n.*632G>A | |
| ENST00000678988.1:n.2671G>A | ||
| ENST00000679053.1:n.4043G>A | ||
| ENST00000679343.1:n.4375G>A | ||
| ENST00000191018.9:c.1293G>A | ENSP00000191018.5:p.Gly431= | |
| ENST00000354880.9:c.1296G>A | ENSP00000346952.4:p.Gly432= | |
| ENST00000372459.6:c.1293G>A | ENSP00000361537.2:p.Gly431= | |
| ENST00000372484.7:c.1347G>A | ENSP00000361562.3:p.Gly449= | |
| ENST00000484855.2:n.1663G>A | ||
| ENST00000606000.1:n.317G>A | ||
| ENST00000606788.5:c.*658G>A | ENSP00000476235.1:n.*658G>A | |
| NM_000308.2:c.1347G>A | NP_000299.2:p.Gly449= | |
| NM_000308.3:c.1347G>A | NP_000299.2:p.Gly449= | |
| NM_001127695.1:c.1293G>A | NP_001121167.1:p.Gly431= | |
| NM_001127695.2:c.1293G>A | NP_001121167.1:p.Gly431= | |
| NM_001167594.1:c.1296G>A | NP_001161066.1:p.Gly432= | |
| NM_001167594.2:c.1296G>A | NP_001161066.1:p.Gly432= | |
| NR_133656.1:n.2536G>A | ||
| NM_000308.4:c.1293G>A MANE Select | NP_000299.3:p.Gly431= | |
| NM_001127695.3:c.1293G>A | NP_001121167.1:p.Gly431= | |
| NM_001167594.3:c.1242G>A | NP_001161066.2:p.Gly414= | |
| NR_133656.2:n.1345G>A |