Linked Data
ClinVar Variation Id:
2184865
dbSNP Id:
rs771590192
ExAC:
1:32740374 C / G
gnomAD v2:
1-32740374-C-G
gnomAD v3:
1-32274773-C-G
gnomAD v4:
1-32274773-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32274773C>G , CM000663.2:g.32274773C>G | GRCh38 |
| NC_000001.10:g.32740374C>G , CM000663.1:g.32740374C>G | GRCh37 |
| NC_000001.9:g.32512961C>G | NCBI36 |
| NG_023387.1:g.28535C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355928.8:n.254C>G | ||
| ENST00000482949.6:c.142C>G | ENSP00000431517.2:p.Leu48Val | |
| ENST00000495610.7:c.142C>G | ENSP00000435605.2:p.Leu48Val | |
| ENST00000696990.1:c.142C>G | ENSP00000513026.1:p.Leu48Val | |
| ENST00000336890.10:c.142C>G MANE Select | ENSP00000337825.5:p.Leu48Val | |
| ENST00000333070.4:c.142C>G | ENSP00000328213.4:p.Leu48Val | |
| ENST00000336890.9:c.142C>G | ENSP00000337825.5:p.Leu48Val | |
| ENST00000355928.7:n.244C>G | ||
| ENST00000373557.6:c.274C>G | ENSP00000362658.2:p.Leu92Val | |
| ENST00000373562.7:c.142C>G | ENSP00000362663.3:p.Leu48Val | |
| ENST00000373564.7:c.142C>G | ENSP00000362665.3:p.Leu48Val | |
| ENST00000461712.6:c.142C>G | ENSP00000434525.1:p.Leu48Val | |
| ENST00000469765.5:n.201C>G | ||
| ENST00000476457.5:n.221C>G | ||
| ENST00000477031.6:c.274C>G | ENSP00000436554.1:p.Leu92Val | |
| ENST00000482949.5:c.142C>G | ENSP00000431517.1:p.Leu48Val | |
| ENST00000495610.6:c.142C>G | ENSP00000435605.1:p.Leu48Val | |
| ENST00000619559.4:c.142C>G | ENSP00000477713.1:p.Leu48Val | |
| NM_001042771.2:c.142C>G | NP_001036236.1:p.Leu48Val | |
| NM_005356.4:c.142C>G | NP_005347.3:p.Leu48Val | |
| XM_011541453.1:c.142C>G | XP_011539755.1:p.Leu48Val | |
| XM_011541454.1:c.142C>G | XP_011539756.1:p.Leu48Val | |
| XM_011541455.1:c.142C>G | XP_011539757.1:p.Leu48Val | |
| NM_001330468.1:c.142C>G | NP_001317397.1:p.Leu48Val | |
| XM_011541453.3:c.142C>G | XP_011539755.1:p.Leu48Val | |
| XM_024447046.1:c.142C>G | XP_024302814.1:p.Leu48Val | |
| XM_024447047.1:c.142C>G | XP_024302815.1:p.Leu48Val | |
| NM_005356.5:c.142C>G MANE Select | NP_005347.3:p.Leu48Val | |
| NM_001330468.2:c.142C>G | NP_001317397.1:p.Leu48Val | |
| NM_001042771.3:c.142C>G | NP_001036236.1:p.Leu48Val |