Linked Data
ClinVar Variation Id:
1088576
ClinVar RCV Id:
RCV001407109
dbSNP Id:
rs1553769376
gnomAD v2:
1-145416843-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018170G>C , CM000663.2:g.146018170G>C | GRCh38 |
| NC_000001.10:g.145416843C>G , CM000663.1:g.145416843C>G | GRCh37 |
| NC_000001.9:g.144128200C>G | NCBI36 |
| NG_011568.1:g.8653C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.1188C>G MANE Select | ENSP00000337014.5:p.Leu396= | |
| ENST00000636675.1:c.510C>G | ENSP00000490072.1:p.Leu170= | |
| ENST00000336751.10:c.1188C>G | ENSP00000337014.5:p.Leu396= | |
| ENST00000357836.5:c.849C>G | ENSP00000350495.5:p.Leu283= | |
| ENST00000475797.1:c.510C>G | ENSP00000425716.1:p.Leu170= | |
| ENST00000497365.5:c.510C>G | ENSP00000421820.1:p.Leu170= | |
| NM_001316767.1:c.510C>G | NP_001303696.1:p.Leu170= | |
| NM_145277.4:c.849C>G | NP_660320.3:p.Leu283= | |
| NM_202004.3:c.510C>G | NP_973733.1:p.Leu170= | |
| NM_213652.3:c.510C>G | NP_998817.1:p.Leu170= | |
| NM_213653.3:c.1188C>G | NP_998818.1:p.Leu396= | |
| XM_005272932.1:c.1188C>G | XP_005272989.1:p.Leu396= | |
| NM_001316767.2:c.510C>G | NP_001303696.1:p.Leu170= | |
| NM_145277.5:c.849C>G | NP_660320.3:p.Leu283= | |
| NM_202004.4:c.510C>G | NP_973733.1:p.Leu170= | |
| NM_213652.4:c.510C>G | NP_998817.1:p.Leu170= | |
| NM_001379352.1:c.1188C>G | NP_001366281.1:p.Leu396= | |
| NM_213653.4:c.1188C>G MANE Select | NP_998818.1:p.Leu396= |