Linked Data
ClinVar Variation Id:
225626
ClinVar RCV Id:
RCV000211503
dbSNP Id:
rs771336819
PubMed:
PMID:26851525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394209T>A , CM000673.2:g.6394209T>A | GRCh38 |
| NC_000011.9:g.6415439T>A , CM000673.1:g.6415439T>A | GRCh37 |
| NC_000011.8:g.6372015T>A | NCBI36 |
| NG_011780.1:g.8785T>A | |
| NG_029615.1:g.30206A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1498T>A MANE Select | ENSP00000340409.4:p.Tyr500Asn | |
| ENST00000342245.8:c.1498T>A | ENSP00000340409.4:p.Tyr500Asn | |
| ENST00000526280.1:c.555T>A | ||
| ENST00000527275.5:c.1495T>A | ENSP00000435350.1:p.Tyr499Asn | |
| ENST00000531303.5:c.*349T>A | ENSP00000432625.1:n.*349T>A | |
| ENST00000531336.1:n.486T>A | ||
| ENST00000533123.5:c.*225T>A | ENSP00000435950.1:n.*225T>A | |
| ENST00000534405.5:c.*329T>A | ENSP00000434353.1:n.*329T>A | |
| NM_000543.4:c.1498T>A | NP_000534.3:p.Tyr500Asn | |
| NM_001007593.2:c.1495T>A | NP_001007594.2:p.Tyr499Asn | |
| XM_005253075.3:c.1518T>A | XP_005253132.1:p.Cys506Ter | |
| XM_011520303.1:c.1366T>A | XP_011518605.1:p.Tyr456Asn | |
| XM_011520304.1:c.1386T>A | XP_011518606.1:p.Cys462Ter | |
| NM_001318087.1:c.1518T>A | NP_001305016.1:p.Cys506Ter | |
| NM_001318088.1:c.577T>A | NP_001305017.1:p.Tyr193Asn | |
| NM_001365135.1:c.1366T>A | NP_001352064.1:p.Tyr456Asn | |
| NR_027400.2:n.1511T>A | ||
| NR_134502.1:n.1050T>A | ||
| XM_011520304.2:c.1386T>A | XP_011518606.1:p.Cys462Ter | |
| XR_001747940.2:n.1683T>A | ||
| XR_002957158.1:n.1865T>A | ||
| NM_000543.5:c.1498T>A MANE Select | NP_000534.3:p.Tyr500Asn | |
| NM_001007593.3:c.1495T>A | NP_001007594.2:p.Tyr499Asn | |
| NM_001318087.2:c.1518T>A | NP_001305016.1:p.Cys506Ter | |
| NM_001318088.2:c.577T>A | NP_001305017.1:p.Tyr193Asn | |
| NM_001365135.2:c.1366T>A | NP_001352064.1:p.Tyr456Asn | |
| NR_027400.3:n.1451T>A | ||
| NR_134502.2:n.990T>A |