Linked Data
ClinVar Variation Id:
235834
ClinVar RCV Id:
RCV000224900
dbSNP Id:
rs878853131
PubMed:
PMID:25683120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101229481G>T , CM000675.2:g.101229481G>T | GRCh38 |
| NC_000013.10:g.101881832G>T , CM000675.1:g.101881832G>T | GRCh37 |
| NC_000013.9:g.100679833G>T | NCBI36 |
| NG_053176.1:g.192726C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.1538C>A MANE Select | ENSP00000251127.6:p.Thr513Asn | |
| ENST00000648359.1:c.1538C>A | ENSP00000497465.1:p.Thr513Asn | |
| ENST00000674840.1:n.1636C>A | ||
| ENST00000674904.1:n.1618C>A | ||
| ENST00000675150.1:c.1538C>A | ENSP00000502680.1:p.Thr513Asn | |
| ENST00000675332.1:c.1538C>A | ENSP00000501955.1:p.Thr513Asn | |
| ENST00000675594.1:c.*975C>A | ENSP00000502490.1:n.*975C>A | |
| ENST00000675802.1:c.1538C>A | ENSP00000501818.1:p.Thr513Asn | |
| ENST00000676315.1:c.1451C>A | ENSP00000501603.1:p.Thr484Asn | |
| ENST00000676439.1:n.1712C>A | ||
| ENST00000251127.10:c.1538C>A | ENSP00000251127.6:p.Thr513Asn | |
| ENST00000470333.1:n.1634C>A | ||
| ENST00000497170.5:n.1692C>A | ||
| NM_052867.2:c.1538C>A | NP_443099.1:p.Thr513Asn | |
| XM_011521067.1:c.1595C>A | XP_011519369.1:p.Thr532Asn | |
| XM_011521068.1:c.1538C>A | XP_011519370.1:p.Thr513Asn | |
| XM_011521069.1:c.1508C>A | XP_011519371.1:p.Thr503Asn | |
| XM_011521070.1:c.1595C>A | XP_011519372.1:p.Thr532Asn | |
| NM_001350748.1:c.1538C>A | NP_001337677.1:p.Thr513Asn | |
| NM_001350749.1:c.1538C>A | NP_001337678.1:p.Thr513Asn | |
| NM_001350750.1:c.1451C>A | NP_001337679.1:p.Thr484Asn | |
| NM_001350751.1:c.1451C>A | NP_001337680.1:p.Thr484Asn | |
| NM_052867.3:c.1538C>A | NP_443099.1:p.Thr513Asn | |
| XM_011521067.2:c.1595C>A | XP_011519369.1:p.Thr532Asn | |
| XM_011521069.2:c.1508C>A | XP_011519371.1:p.Thr503Asn | |
| XM_017020536.2:c.1091C>A | XP_016876025.1:p.Thr364Asn | |
| XM_017020537.1:c.773C>A | XP_016876026.1:p.Thr258Asn | |
| XM_024449336.1:c.1595C>A | XP_024305104.1:p.Thr532Asn | |
| NM_052867.4:c.1538C>A MANE Select | NP_443099.1:p.Thr513Asn | |
| NM_001350748.2:c.1538C>A | NP_001337677.1:p.Thr513Asn | |
| NM_001350749.2:c.1538C>A | NP_001337678.1:p.Thr513Asn | |
| NM_001350750.2:c.1451C>A | NP_001337679.1:p.Thr484Asn | |
| NM_001350751.2:c.1451C>A | NP_001337680.1:p.Thr484Asn |