Linked Data
ClinVar Variation Id:
235837
ClinVar RCV Id:
RCV000224612
dbSNP Id:
rs878853134
PubMed:
PMID:25683120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101292232G>T , CM000675.2:g.101292232G>T | GRCh38 |
| NC_000013.10:g.101944583G>T , CM000675.1:g.101944583G>T | GRCh37 |
| NC_000013.9:g.100742584G>T | NCBI36 |
| NG_053176.1:g.129975C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251127.11:c.934C>A MANE Select | ENSP00000251127.6:p.Leu312Ile | |
| ENST00000648359.1:c.934C>A | ENSP00000497465.1:p.Leu312Ile | |
| ENST00000674840.1:n.1032C>A | ||
| ENST00000674904.1:n.1014C>A | ||
| ENST00000675075.1:n.536C>A | ||
| ENST00000675150.1:c.934C>A | ENSP00000502680.1:p.Leu312Ile | |
| ENST00000675332.1:c.934C>A | ENSP00000501955.1:p.Leu312Ile | |
| ENST00000675415.1:n.1117C>A | ||
| ENST00000675594.1:c.*371C>A | ENSP00000502490.1:n.*371C>A | |
| ENST00000675802.1:c.934C>A | ENSP00000501818.1:p.Leu312Ile | |
| ENST00000676315.1:c.934C>A | ENSP00000501603.1:p.Leu312Ile | |
| ENST00000676439.1:n.1108C>A | ||
| ENST00000251127.10:c.934C>A | ENSP00000251127.6:p.Leu312Ile | |
| ENST00000470333.1:n.1030C>A | ||
| ENST00000497170.5:n.1088C>A | ||
| NM_052867.2:c.934C>A | NP_443099.1:p.Leu312Ile | |
| XM_011521067.1:c.991C>A | XP_011519369.1:p.Leu331Ile | |
| XM_011521068.1:c.934C>A | XP_011519370.1:p.Leu312Ile | |
| XM_011521069.1:c.991C>A | XP_011519371.1:p.Leu331Ile | |
| XM_011521070.1:c.991C>A | XP_011519372.1:p.Leu331Ile | |
| NM_001350748.1:c.934C>A | NP_001337677.1:p.Leu312Ile | |
| NM_001350749.1:c.934C>A | NP_001337678.1:p.Leu312Ile | |
| NM_001350750.1:c.934C>A | NP_001337679.1:p.Leu312Ile | |
| NM_001350751.1:c.934C>A | NP_001337680.1:p.Leu312Ile | |
| NM_052867.3:c.934C>A | NP_443099.1:p.Leu312Ile | |
| XM_011521067.2:c.991C>A | XP_011519369.1:p.Leu331Ile | |
| XM_011521069.2:c.991C>A | XP_011519371.1:p.Leu331Ile | |
| XM_017020536.2:c.487C>A | XP_016876025.1:p.Leu163Ile | |
| XM_017020537.1:c.169C>A | XP_016876026.1:p.Leu57Ile | |
| XM_024449336.1:c.991C>A | XP_024305104.1:p.Leu331Ile | |
| NM_052867.4:c.934C>A MANE Select | NP_443099.1:p.Leu312Ile | |
| NM_001350748.2:c.934C>A | NP_001337677.1:p.Leu312Ile | |
| NM_001350749.2:c.934C>A | NP_001337678.1:p.Leu312Ile | |
| NM_001350750.2:c.934C>A | NP_001337679.1:p.Leu312Ile | |
| NM_001350751.2:c.934C>A | NP_001337680.1:p.Leu312Ile |