Linked Data
ClinVar Variation Id:
338540
dbSNP Id:
rs25649
ExAC:
20:44526742 G / A
gnomAD v2:
20-44526742-G-A
gnomAD v3:
20-45898103-G-A
gnomAD v4:
20-45898103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898103G>A , CM000682.2:g.45898103G>A | GRCh38 |
| NC_000020.10:g.44526742G>A , CM000682.1:g.44526742G>A | GRCh37 |
| NC_000020.9:g.43960149G>A | NCBI36 |
| NG_008291.1:g.12152G>A | |
| NG_012115.1:g.19045C>T | |
| NG_012115.2:g.19045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.5490G>A | ||
| ENST00000484855.4:n.4108G>A | ||
| ENST00000493522.8:n.1720G>A | ||
| ENST00000606066.3:n.1844G>A | ||
| ENST00000606782.3:n.1474G>A | ||
| ENST00000607187.3:n.4277G>A | ||
| ENST00000607212.3:n.1564G>A | ||
| ENST00000607814.7:n.3104G>A | ||
| ENST00000677755.2:n.1773G>A | ||
| ENST00000678622.2:n.2644G>A | ||
| ENST00000678691.2:n.3601G>A | ||
| ENST00000678988.2:n.2731G>A | ||
| ENST00000679053.2:n.4475G>A | ||
| ENST00000679343.2:n.4814G>A | ||
| ENST00000684198.1:n.1968G>A | ||
| ENST00000372459.7:c.1353G>A | ENSP00000361537.2:p.Thr451= | |
| ENST00000372484.8:c.1407G>A | ENSP00000361562.3:p.Thr469= | |
| ENST00000484855.3:n.4108G>A | ||
| ENST00000493522.7:n.1720G>A | ||
| ENST00000606066.2:n.1492G>A | ||
| ENST00000607187.2:n.3791G>A | ||
| ENST00000607212.2:n.1564G>A | ||
| ENST00000607482.6:c.1353G>A | ENSP00000475524.2:p.Thr451= | |
| ENST00000646241.3:c.1353G>A MANE Select | ENSP00000493613.2:p.Thr451= | |
| ENST00000676597.1:c.1192G>A | ENSP00000503904.1:n.1192G>A | |
| ENST00000676967.1:c.*746G>A | ENSP00000502866.1:n.*746G>A | |
| ENST00000677394.1:c.1407G>A | ENSP00000504790.1:p.Thr469= | |
| ENST00000677525.1:c.*1176G>A | ENSP00000504197.1:n.*1176G>A | |
| ENST00000677755.1:n.1773G>A | ||
| ENST00000678025.1:c.*1417G>A | ENSP00000503463.1:n.*1417G>A | |
| ENST00000678078.1:c.*916G>A | ENSP00000502993.1:n.*916G>A | |
| ENST00000678217.1:c.2135G>A | ENSP00000504109.1:n.2135G>A | |
| ENST00000678331.1:c.*71G>A | ENSP00000504524.1:n.*71G>A | |
| ENST00000678443.1:c.1263G>A | ENSP00000504006.1:p.Thr421= | |
| ENST00000678512.1:n.5914G>A | ||
| ENST00000678622.1:n.2272G>A | ||
| ENST00000678691.1:n.3062G>A | ||
| ENST00000678939.1:c.*692G>A | ENSP00000503404.1:n.*692G>A | |
| ENST00000678988.1:n.2731G>A | ||
| ENST00000679053.1:n.4103G>A | ||
| ENST00000679343.1:n.4435G>A | ||
| ENST00000191018.9:c.1353G>A | ENSP00000191018.5:p.Thr451= | |
| ENST00000354880.9:c.1356G>A | ENSP00000346952.4:p.Thr452= | |
| ENST00000372459.6:c.1353G>A | ENSP00000361537.2:p.Thr451= | |
| ENST00000372484.7:c.1407G>A | ENSP00000361562.3:p.Thr469= | |
| ENST00000484855.2:n.1723G>A | ||
| ENST00000606000.1:n.377G>A | ||
| ENST00000606788.5:c.*718G>A | ENSP00000476235.1:n.*718G>A | |
| NM_000308.2:c.1407G>A | NP_000299.2:p.Thr469= | |
| NM_000308.3:c.1407G>A | NP_000299.2:p.Thr469= | |
| NM_001127695.1:c.1353G>A | NP_001121167.1:p.Thr451= | |
| NM_001127695.2:c.1353G>A | NP_001121167.1:p.Thr451= | |
| NM_001167594.1:c.1356G>A | NP_001161066.1:p.Thr452= | |
| NM_001167594.2:c.1356G>A | NP_001161066.1:p.Thr452= | |
| NR_133656.1:n.2596G>A | ||
| NM_000308.4:c.1353G>A MANE Select | NP_000299.3:p.Thr451= | |
| NM_001127695.3:c.1353G>A | NP_001121167.1:p.Thr451= | |
| NM_001167594.3:c.1302G>A | NP_001161066.2:p.Thr434= | |
| NR_133656.2:n.1405G>A |