Linked Data
ClinVar Variation Id:
358954
ClinVar RCV Id:
RCV000398162
dbSNP Id:
rs886062004
gnomAD v4:
7-138091852-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138091852C>G , CM000669.2:g.138091852C>G | GRCh38 |
| NC_000007.13:g.137776598C>G , CM000669.1:g.137776598C>G | GRCh37 |
| NC_000007.12:g.137427138C>G | NCBI36 |
| NG_023342.1:g.20421C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.346C>G MANE Select | ENSP00000242375.3:p.Leu116Val | |
| ENST00000242375.7:c.346C>G | ENSP00000242375.3:p.Leu116Val | |
| ENST00000411726.6:c.346C>G | ENSP00000402374.2:p.Leu116Val | |
| ENST00000432161.5:c.346C>G | ENSP00000389197.1:p.Leu116Val | |
| ENST00000438242.1:c.178C>G | ENSP00000397042.1:p.Leu60Val | |
| ENST00000468877.2:n.256C>G | ||
| ENST00000470851.1:n.10C>G | ||
| NM_001190906.1:c.346C>G | NP_001177835.1:p.Leu116Val | |
| NM_001190907.1:c.346C>G | NP_001177836.1:p.Leu116Val | |
| NM_005989.3:c.346C>G | NP_005980.1:p.Leu116Val | |
| NM_005989.4:c.346C>G MANE Select | NP_005980.1:p.Leu116Val | |
| NM_001190906.2:c.346C>G | NP_001177835.1:p.Leu116Val | |
| NM_001190907.2:c.346C>G | NP_001177836.1:p.Leu116Val |