Linked Data
ClinVar Variation Id:
381
dbSNP Id:
rs137854544
ExAC:
20:44522679 T / A
gnomAD v2:
20-44522679-T-A
gnomAD v3:
20-45894040-T-A
gnomAD v4:
20-45894040-T-A
COSMIC:
COSM1740685
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45894040T>A , CM000682.2:g.45894040T>A | GRCh38 |
| NC_000020.10:g.44522679T>A , CM000682.1:g.44522679T>A | GRCh37 |
| NC_000020.9:g.43956086T>A | NCBI36 |
| NG_008291.1:g.8089T>A | |
| NG_033108.1:g.2248A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480961.3:n.2177T>A | ||
| ENST00000484855.4:n.795T>A | ||
| ENST00000493522.8:n.1112T>A | ||
| ENST00000606066.3:n.1236T>A | ||
| ENST00000606782.3:n.866T>A | ||
| ENST00000607187.3:n.1162T>A | ||
| ENST00000607212.3:n.956T>A | ||
| ENST00000607814.7:n.2496T>A | ||
| ENST00000677755.2:n.1165T>A | ||
| ENST00000678622.2:n.1162T>A | ||
| ENST00000678691.2:n.1162T>A | ||
| ENST00000678988.2:n.2123T>A | ||
| ENST00000679053.2:n.1162T>A | ||
| ENST00000679343.2:n.1501T>A | ||
| ENST00000684198.1:n.1162T>A | ||
| ENST00000372459.7:c.745T>A | ENSP00000361537.2:p.Tyr249Asn | |
| ENST00000372484.8:c.799T>A | ENSP00000361562.3:p.Tyr267Asn | |
| ENST00000419493.3:c.745T>A | ENSP00000408533.3:p.Tyr249Asn | |
| ENST00000480961.2:n.1787T>A | ||
| ENST00000484855.3:n.795T>A | ||
| ENST00000493522.7:n.1112T>A | ||
| ENST00000606066.2:n.884T>A | ||
| ENST00000606394.6:c.*387T>A | ENSP00000475827.1:n.*387T>A | |
| ENST00000606782.2:n.866T>A | ||
| ENST00000607187.2:n.676T>A | ||
| ENST00000607212.2:n.956T>A | ||
| ENST00000607482.6:c.745T>A | ENSP00000475524.2:p.Tyr249Asn | |
| ENST00000607814.6:n.2496T>A | ||
| ENST00000646241.3:c.745T>A MANE Select | ENSP00000493613.2:p.Tyr249Asn | |
| ENST00000676526.1:c.*110T>A | ENSP00000504209.1:n.*110T>A | |
| ENST00000676597.1:c.745T>A | ENSP00000503904.1:p.Tyr249Asn | |
| ENST00000676657.1:c.*5T>A | ENSP00000504158.1:n.*5T>A | |
| ENST00000676967.1:c.*147T>A | ENSP00000502866.1:n.*147T>A | |
| ENST00000677394.1:c.799T>A | ENSP00000504790.1:p.Tyr267Asn | |
| ENST00000677525.1:c.*568T>A | ENSP00000504197.1:n.*568T>A | |
| ENST00000677755.1:n.1165T>A | ||
| ENST00000678025.1:c.*300T>A | ENSP00000503463.1:n.*300T>A | |
| ENST00000678078.1:c.*110T>A | ENSP00000502993.1:n.*110T>A | |
| ENST00000678217.1:c.745T>A | ENSP00000504109.1:p.Tyr249Asn | |
| ENST00000678331.1:c.745T>A | ENSP00000504524.1:p.Tyr249Asn | |
| ENST00000678443.1:c.745T>A | ENSP00000504006.1:p.Tyr249Asn | |
| ENST00000678512.1:n.2024T>A | ||
| ENST00000678622.1:n.790T>A | ||
| ENST00000678691.1:n.623T>A | ||
| ENST00000678939.1:c.745T>A | ENSP00000503404.1:p.Tyr249Asn | |
| ENST00000678988.1:n.2123T>A | ||
| ENST00000679053.1:n.790T>A | ||
| ENST00000679343.1:n.1122T>A | ||
| ENST00000191018.9:c.745T>A | ENSP00000191018.5:p.Tyr249Asn | |
| ENST00000354880.9:c.748T>A | ENSP00000346952.4:p.Tyr250Asn | |
| ENST00000372459.6:c.745T>A | ENSP00000361537.2:p.Tyr249Asn | |
| ENST00000372484.7:c.799T>A | ENSP00000361562.3:p.Tyr267Asn | |
| ENST00000419493.2:c.274T>A | ENSP00000408533.2:p.Tyr92Asn | |
| ENST00000480961.1:n.53T>A | ||
| ENST00000485627.1:n.406T>A | ||
| ENST00000493522.6:n.404T>A | ||
| ENST00000606788.5:c.*110T>A | ENSP00000476235.1:n.*110T>A | |
| NM_000308.2:c.799T>A | NP_000299.2:p.Tyr267Asn | |
| NM_000308.3:c.799T>A | NP_000299.2:p.Tyr267Asn | |
| NM_001127695.1:c.745T>A | NP_001121167.1:p.Tyr249Asn | |
| NM_001127695.2:c.745T>A | NP_001121167.1:p.Tyr249Asn | |
| NM_001167594.1:c.748T>A | NP_001161066.1:p.Tyr250Asn | |
| NM_001167594.2:c.748T>A | NP_001161066.1:p.Tyr250Asn | |
| NR_133656.1:n.1988T>A | ||
| NM_000308.4:c.745T>A MANE Select | NP_000299.3:p.Tyr249Asn | |
| NM_001127695.3:c.745T>A | NP_001121167.1:p.Tyr249Asn | |
| NM_001167594.3:c.694T>A | NP_001161066.2:p.Tyr232Asn | |
| NR_133656.2:n.797T>A |