Linked Data
ClinVar Variation Id:
187774
ClinVar RCV Id:
RCV000167531
dbSNP Id:
rs786203987
PubMed:
PMID:25683120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101229493A>G , CM000675.2:g.101229493A>G | GRCh38 |
| NC_000013.10:g.101881844A>G , CM000675.1:g.101881844A>G | GRCh37 |
| NC_000013.9:g.100679845A>G | NCBI36 |
| NG_053176.1:g.192714T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.1526T>C MANE Select | ENSP00000251127.6:p.Leu509Ser | |
| ENST00000648359.1:c.1526T>C | ENSP00000497465.1:p.Leu509Ser | |
| ENST00000674840.1:n.1624T>C | ||
| ENST00000674904.1:n.1606T>C | ||
| ENST00000675150.1:c.1526T>C | ENSP00000502680.1:p.Leu509Ser | |
| ENST00000675332.1:c.1526T>C | ENSP00000501955.1:p.Leu509Ser | |
| ENST00000675594.1:c.*963T>C | ENSP00000502490.1:n.*963T>C | |
| ENST00000675802.1:c.1526T>C | ENSP00000501818.1:p.Leu509Ser | |
| ENST00000676315.1:c.1439T>C | ENSP00000501603.1:p.Leu480Ser | |
| ENST00000676439.1:n.1700T>C | ||
| ENST00000251127.10:c.1526T>C | ENSP00000251127.6:p.Leu509Ser | |
| ENST00000470333.1:n.1622T>C | ||
| ENST00000497170.5:n.1680T>C | ||
| NM_052867.2:c.1526T>C | NP_443099.1:p.Leu509Ser | |
| XM_011521067.1:c.1583T>C | XP_011519369.1:p.Leu528Ser | |
| XM_011521068.1:c.1526T>C | XP_011519370.1:p.Leu509Ser | |
| XM_011521069.1:c.1496T>C | XP_011519371.1:p.Leu499Ser | |
| XM_011521070.1:c.1583T>C | XP_011519372.1:p.Leu528Ser | |
| NM_001350748.1:c.1526T>C | NP_001337677.1:p.Leu509Ser | |
| NM_001350749.1:c.1526T>C | NP_001337678.1:p.Leu509Ser | |
| NM_001350750.1:c.1439T>C | NP_001337679.1:p.Leu480Ser | |
| NM_001350751.1:c.1439T>C | NP_001337680.1:p.Leu480Ser | |
| NM_052867.3:c.1526T>C | NP_443099.1:p.Leu509Ser | |
| XM_011521067.2:c.1583T>C | XP_011519369.1:p.Leu528Ser | |
| XM_011521069.2:c.1496T>C | XP_011519371.1:p.Leu499Ser | |
| XM_017020536.2:c.1079T>C | XP_016876025.1:p.Leu360Ser | |
| XM_017020537.1:c.761T>C | XP_016876026.1:p.Leu254Ser | |
| XM_024449336.1:c.1583T>C | XP_024305104.1:p.Leu528Ser | |
| NM_052867.4:c.1526T>C MANE Select | NP_443099.1:p.Leu509Ser | |
| NM_001350748.2:c.1526T>C | NP_001337677.1:p.Leu509Ser | |
| NM_001350749.2:c.1526T>C | NP_001337678.1:p.Leu509Ser | |
| NM_001350750.2:c.1439T>C | NP_001337679.1:p.Leu480Ser | |
| NM_001350751.2:c.1439T>C | NP_001337680.1:p.Leu480Ser |