Linked Data
ClinVar Variation Id:
161693
ClinVar RCV Id:
RCV000149229
dbSNP Id:
rs193920893
COSMIC:
COSM1180047
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38673201C>G , CM000684.2:g.38673201C>G | GRCh38 |
| NC_000022.10:g.39069206C>G , CM000684.1:g.39069206C>G | GRCh37 |
| NC_000022.9:g.37399152C>G | NCBI36 |
| NG_047138.1:g.21549C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411557.6:c.346C>G | ENSP00000413934.2:p.Leu116Val | |
| ENST00000416285.6:c.346C>G | ENSP00000412260.2:p.Leu116Val | |
| ENST00000216029.8:c.346C>G MANE Select | ENSP00000216029.3:p.Leu116Val | |
| ENST00000216029.7:c.346C>G | ENSP00000216029.3:p.Leu116Val | |
| ENST00000396811.6:c.346C>G | ENSP00000380026.2:p.Leu116Val | |
| ENST00000489847.1:n.564C>G | ||
| ENST00000619293.1:c.475C>G | ENSP00000478962.1:p.Leu159Val | |
| NM_001002880.1:c.475C>G | NP_001002880.2:p.Leu159Val | |
| NM_015373.3:c.346C>G | NP_056188.1:p.Leu116Val | |
| NM_001002880.2:c.475C>G | NP_001002880.2:p.Leu159Val | |
| NM_015373.4:c.346C>G MANE Select | NP_056188.1:p.Leu116Val | |
| NM_001002880.4:c.346C>G | NP_001002880.3:p.Leu116Val |