Linked Data
ClinVar Variation Id:
447424
ClinVar RCV Id:
RCV000517815
dbSNP Id:
rs1312678560
gnomAD v4:
7-44146574-C-A
PubMed:
PMID:25921421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146574C>A , CM000669.2:g.44146574C>A | GRCh38 |
| NC_000007.13:g.44186173C>A , CM000669.1:g.44186173C>A | GRCh37 |
| NC_000007.12:g.44152698C>A | NCBI36 |
| NG_008847.1:g.47850G>T | |
| NG_008847.2:g.56597G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*906G>T | ENSP00000379142.4:n.*906G>T | |
| ENST00000616242.5:c.*28G>T | ENSP00000482149.2:n.*28G>T | |
| ENST00000683378.1:n.134G>T | ||
| ENST00000345378.7:c.911G>T | ENSP00000223366.2:p.Arg304Leu | |
| ENST00000403799.8:c.908G>T MANE Select | ENSP00000384247.3:p.Arg303Leu | |
| ENST00000671824.1:c.971G>T | ENSP00000500264.1:p.Arg324Leu | |
| ENST00000673284.1:c.908G>T | ENSP00000499852.1:p.Arg303Leu | |
| ENST00000345378.6:c.911G>T | ENSP00000223366.2:p.Arg304Leu | |
| ENST00000395796.7:c.905G>T | ENSP00000379142.3:p.Arg302Leu | |
| ENST00000403799.7:c.908G>T | ENSP00000384247.3:p.Arg303Leu | |
| ENST00000437084.1:c.857G>T | ENSP00000402840.1:p.Arg286Leu | |
| ENST00000473353.1:n.206G>T | ||
| ENST00000616242.4:c.905G>T | ENSP00000482149.1:p.Arg302Leu | |
| NM_000162.3:c.908G>T | NP_000153.1:p.Arg303Leu | |
| NM_033507.1:c.911G>T | NP_277042.1:p.Arg304Leu | |
| NM_033508.1:c.905G>T | NP_277043.1:p.Arg302Leu | |
| NM_000162.4:c.908G>T | NP_000153.1:p.Arg303Leu | |
| NM_001354800.1:c.908G>T | NP_001341729.1:p.Arg303Leu | |
| NM_001354801.1:c.8+45G>T | NP_001341730.1:n.8+45G>T | |
| NM_033507.2:c.911G>T | NP_277042.1:p.Arg304Leu | |
| NM_033508.2:c.905G>T | NP_277043.1:p.Arg302Leu | |
| NM_000162.5:c.908G>T MANE Select | NP_000153.1:p.Arg303Leu | |
| NM_033507.3:c.911G>T | NP_277042.1:p.Arg304Leu | |
| NM_033508.3:c.905G>T | NP_277043.1:p.Arg302Leu |