Linked Data
ClinVar Variation Id:
388
ClinVar RCV Id:
RCV000000419
dbSNP Id:
rs137854549
PubMed:
PMID:10944848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898107A>G , CM000682.2:g.45898107A>G | GRCh38 |
| NC_000020.10:g.44526746A>G , CM000682.1:g.44526746A>G | GRCh37 |
| NC_000020.9:g.43960153A>G | NCBI36 |
| NG_008291.1:g.12156A>G | |
| NG_012115.1:g.19041T>C | |
| NG_012115.2:g.19041T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480961.3:n.5494A>G | ||
| ENST00000484855.4:n.4112A>G | ||
| ENST00000493522.8:n.1724A>G | ||
| ENST00000606066.3:n.1848A>G | ||
| ENST00000606782.3:n.1478A>G | ||
| ENST00000607187.3:n.4281A>G | ||
| ENST00000607212.3:n.1568A>G | ||
| ENST00000607814.7:n.3108A>G | ||
| ENST00000677755.2:n.1777A>G | ||
| ENST00000678622.2:n.2648A>G | ||
| ENST00000678691.2:n.3605A>G | ||
| ENST00000678988.2:n.2735A>G | ||
| ENST00000679053.2:n.4479A>G | ||
| ENST00000679343.2:n.4818A>G | ||
| ENST00000684198.1:n.1972A>G | ||
| ENST00000372459.7:c.1357A>G | ENSP00000361537.2:p.Lys453Glu | |
| ENST00000372484.8:c.1411A>G | ENSP00000361562.3:p.Lys471Glu | |
| ENST00000484855.3:n.4112A>G | ||
| ENST00000493522.7:n.1724A>G | ||
| ENST00000606066.2:n.1496A>G | ||
| ENST00000607187.2:n.3795A>G | ||
| ENST00000607212.2:n.1568A>G | ||
| ENST00000607482.6:c.1357A>G | ENSP00000475524.2:p.Lys453Glu | |
| ENST00000646241.3:c.1357A>G MANE Select | ENSP00000493613.2:p.Lys453Glu | |
| ENST00000676597.1:c.1196A>G | ENSP00000503904.1:n.1196A>G | |
| ENST00000676967.1:c.*750A>G | ENSP00000502866.1:n.*750A>G | |
| ENST00000677394.1:c.1411A>G | ENSP00000504790.1:p.Lys471Glu | |
| ENST00000677525.1:c.*1180A>G | ENSP00000504197.1:n.*1180A>G | |
| ENST00000677755.1:n.1777A>G | ||
| ENST00000678025.1:c.*1421A>G | ENSP00000503463.1:n.*1421A>G | |
| ENST00000678078.1:c.*920A>G | ENSP00000502993.1:n.*920A>G | |
| ENST00000678217.1:c.2139A>G | ENSP00000504109.1:n.2139A>G | |
| ENST00000678331.1:c.*75A>G | ENSP00000504524.1:n.*75A>G | |
| ENST00000678443.1:c.1267A>G | ENSP00000504006.1:p.Lys423Glu | |
| ENST00000678512.1:n.5918A>G | ||
| ENST00000678622.1:n.2276A>G | ||
| ENST00000678691.1:n.3066A>G | ||
| ENST00000678939.1:c.*696A>G | ENSP00000503404.1:n.*696A>G | |
| ENST00000678988.1:n.2735A>G | ||
| ENST00000679053.1:n.4107A>G | ||
| ENST00000679343.1:n.4439A>G | ||
| ENST00000191018.9:c.1357A>G | ENSP00000191018.5:p.Lys453Glu | |
| ENST00000354880.9:c.1360A>G | ENSP00000346952.4:p.Lys454Glu | |
| ENST00000372459.6:c.1357A>G | ENSP00000361537.2:p.Lys453Glu | |
| ENST00000372484.7:c.1411A>G | ENSP00000361562.3:p.Lys471Glu | |
| ENST00000484855.2:n.1727A>G | ||
| ENST00000606000.1:n.381A>G | ||
| ENST00000606788.5:c.*722A>G | ENSP00000476235.1:n.*722A>G | |
| NM_000308.2:c.1411A>G | NP_000299.2:p.Lys471Glu | |
| NM_000308.3:c.1411A>G | NP_000299.2:p.Lys471Glu | |
| NM_001127695.1:c.1357A>G | NP_001121167.1:p.Lys453Glu | |
| NM_001127695.2:c.1357A>G | NP_001121167.1:p.Lys453Glu | |
| NM_001167594.1:c.1360A>G | NP_001161066.1:p.Lys454Glu | |
| NM_001167594.2:c.1360A>G | NP_001161066.1:p.Lys454Glu | |
| NR_133656.1:n.2600A>G | ||
| NM_000308.4:c.1357A>G MANE Select | NP_000299.3:p.Lys453Glu | |
| NM_001127695.3:c.1357A>G | NP_001121167.1:p.Lys453Glu | |
| NM_001167594.3:c.1306A>G | NP_001161066.2:p.Lys436Glu | |
| NR_133656.2:n.1409A>G |