Linked Data
ClinVar Variation Id:
374912
ClinVar RCV Id:
RCV000415524
dbSNP Id:
rs371310428
gnomAD v4:
18-36156575-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36156575G>T , CM000680.2:g.36156575G>T | GRCh38 |
| NC_000018.9:g.33736538G>T , CM000680.1:g.33736538G>T | GRCh37 |
| NC_000018.8:g.31990536G>T | NCBI36 |
| NG_050745.1:g.31702G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358232.11:c.1385G>T MANE Select | ENSP00000350967.6:p.Arg462Leu | |
| ENST00000350494.10:c.1370G>T | ENSP00000316051.6:p.Arg457Leu | |
| ENST00000351393.10:c.1307G>T | ENSP00000257191.7:p.Arg436Leu | |
| ENST00000358232.10:c.1385G>T | ENSP00000350967.6:p.Arg462Leu | |
| ENST00000423854.6:c.1175G>T | ENSP00000391202.2:p.Arg392Leu | |
| ENST00000442325.6:c.1580G>T | ENSP00000414851.2:p.Arg527Leu | |
| ENST00000539560.5:c.1385G>T | ENSP00000443555.1:p.Arg462Leu | |
| ENST00000540799.1:c.289-4357G>T | ENSP00000468091.1:n.289-4357G>T | |
| ENST00000542050.5:n.179G>T | ||
| ENST00000542824.5:c.1175G>T | ENSP00000443800.1:p.Arg392Leu | |
| NM_001242875.1:c.1580G>T | NP_001229804.1:p.Arg527Leu | |
| NM_001242876.1:c.1370G>T | NP_001229805.1:p.Arg457Leu | |
| NM_001242877.1:c.1307G>T | NP_001229806.1:p.Arg436Leu | |
| NM_001242878.1:c.1175G>T | NP_001229807.1:p.Arg392Leu | |
| NM_001242879.1:c.1175G>T | NP_001229808.1:p.Arg392Leu | |
| NM_018255.2:c.1385G>T | NP_060725.1:p.Arg462Leu | |
| NR_040110.1:n.1445G>T | ||
| XR_430081.1:n.1615G>T | ||
| NM_001242875.2:c.1580G>T | NP_001229804.1:p.Arg527Leu | |
| NM_001242876.2:c.1370G>T | NP_001229805.1:p.Arg457Leu | |
| NM_001242877.2:c.1307G>T | NP_001229806.1:p.Arg436Leu | |
| NM_001242878.2:c.1175G>T | NP_001229807.1:p.Arg392Leu | |
| NM_001242879.2:c.1175G>T | NP_001229808.1:p.Arg392Leu | |
| NM_001324465.1:c.1253G>T | NP_001311394.1:p.Arg418Leu | |
| NM_001324466.1:c.1502G>T | NP_001311395.1:p.Arg501Leu | |
| NM_001324467.1:c.1235G>T | NP_001311396.1:p.Arg412Leu | |
| NM_001324468.1:c.938G>T | NP_001311397.1:p.Arg313Leu | |
| NM_018255.3:c.1385G>T | NP_060725.1:p.Arg462Leu | |
| NR_040110.2:n.1445G>T | ||
| NR_136897.1:n.1378G>T | ||
| NR_136898.1:n.1445G>T | ||
| NR_137173.1:n.1445G>T | ||
| XR_430081.2:n.1615G>T | ||
| NM_018255.4:c.1385G>T MANE Select | NP_060725.1:p.Arg462Leu | |
| NM_001242875.3:c.1580G>T | NP_001229804.1:p.Arg527Leu | |
| NM_001242876.3:c.1370G>T | NP_001229805.1:p.Arg457Leu | |
| NM_001242877.3:c.1307G>T | NP_001229806.1:p.Arg436Leu | |
| NM_001242878.3:c.1175G>T | NP_001229807.1:p.Arg392Leu | |
| NM_001242879.3:c.1175G>T | NP_001229808.1:p.Arg392Leu | |
| NM_001324465.2:c.1253G>T | NP_001311394.1:p.Arg418Leu | |
| NM_001324466.2:c.1502G>T | NP_001311395.1:p.Arg501Leu | |
| NM_001324467.2:c.1235G>T | NP_001311396.1:p.Arg412Leu | |
| NM_001324468.2:c.938G>T | NP_001311397.1:p.Arg313Leu | |
| NR_040110.3:n.1420G>T | ||
| NR_136897.2:n.1353G>T | ||
| NR_136898.2:n.1420G>T | ||
| NR_137173.2:n.1420G>T |