Linked Data
ClinVar Variation Id:
459158
dbSNP Id:
rs1392463987
gnomAD v2:
1-17350548-G-C
gnomAD v4:
1-17024053-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024053G>C , CM000663.2:g.17024053G>C | GRCh38 |
| NC_000001.10:g.17350548G>C , CM000663.1:g.17350548G>C | GRCh37 |
| NC_000001.9:g.17223135G>C | NCBI36 |
| NG_012340.1:g.35118C>G , LRG_316:g.35118C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.391C>G | ENSP00000481376.2:p.Leu131Val | |
| ENST00000491274.6:c.520C>G | ENSP00000480482.2:p.Leu174Val | |
| ENST00000375499.8:c.562C>G MANE Select | ENSP00000364649.3:p.Leu188Val | |
| ENST00000375499.7:c.562C>G | ENSP00000364649.3:p.Leu188Val | |
| ENST00000485515.5:n.496C>G | ||
| ENST00000491274.5:c.520C>G | ENSP00000480482.1:p.Leu174Val | |
| NM_003000.2:c.562C>G , LRG_316t1:c.562C>G | NP_002991.2:p.Leu188Val | |
| NM_003000.3:c.562C>G MANE Select | NP_002991.2:p.Leu188Val |