Linked Data
ClinVar Variation Id:
182046
dbSNP Id:
rs376727038
ExAC:
2:215634012 G / C
gnomAD v2:
2-215634012-G-C
gnomAD v3:
2-214769288-G-C
gnomAD v4:
2-214769288-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214769288G>C , CM000664.2:g.214769288G>C | GRCh38 |
| NC_000002.11:g.215634012G>C , CM000664.1:g.215634012G>C | GRCh37 |
| NC_000002.10:g.215342257G>C | NCBI36 |
| NG_012047.2:g.45417C>G | |
| NG_012047.3:g.45424C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1339C>G MANE Select | ENSP00000260947.4:p.Leu447Val | |
| ENST00000421162.2:c.216-16733C>G | ENSP00000392245.2:n.216-16733C>G | |
| ENST00000613192.2:c.159-38780C>G | ENSP00000483275.2:n.159-38780C>G | |
| ENST00000613374.5:c.159-16733C>G | ENSP00000484464.1:n.159-16733C>G | |
| ENST00000613706.5:c.931C>G | ENSP00000484976.2:p.Leu311Val | |
| ENST00000617164.5:c.1282C>G | ENSP00000480470.1:p.Leu428Val | |
| ENST00000619009.5:c.364+23009C>G | ENSP00000482293.1:n.364+23009C>G | |
| ENST00000650978.1:c.2714C>G | ||
| ENST00000260947.8:c.1339C>G | ENSP00000260947.4:p.Leu447Val | |
| ENST00000421162.1:c.216-16733C>G | ENSP00000392245.1:n.216-16733C>G | |
| ENST00000455743.5:c.*959C>G | ENSP00000412186.1:n.*959C>G | |
| ENST00000613192.1:c.74-38780C>G | ENSP00000483275.1:n.74-38780C>G | |
| ENST00000613374.4:c.159-16733C>G | ENSP00000484464.1:n.159-16733C>G | |
| ENST00000613706.4:c.216-16733C>G | ENSP00000484976.1:n.216-16733C>G | |
| ENST00000617164.4:c.1282C>G | ENSP00000480470.1:p.Leu428Val | |
| ENST00000619009.4:c.364+23009C>G | ENSP00000482293.1:n.364+23009C>G | |
| ENST00000620057.4:c.*5C>G | ENSP00000481988.1:n.*5C>G | |
| NM_000465.3:c.1339C>G | NP_000456.2:p.Leu447Val | |
| NM_001282543.1:c.1282C>G | NP_001269472.1:p.Leu428Val | |
| NM_001282545.1:c.216-16733C>G | NP_001269474.1:n.216-16733C>G | |
| NM_001282548.1:c.159-16733C>G | NP_001269477.1:n.159-16733C>G | |
| NM_001282549.1:c.364+23009C>G | NP_001269478.1:n.364+23009C>G | |
| NR_104212.1:n.1332C>G | ||
| NR_104215.1:n.1275C>G | ||
| NR_104216.1:n.531C>G | ||
| XM_011511567.1:c.1285C>G | XP_011509869.1:p.Leu429Val | |
| XM_011511568.1:c.1339C>G | XP_011509870.1:p.Leu447Val | |
| XM_017004613.1:c.1438C>G | XP_016860102.1:p.Leu480Val | |
| XM_017004614.1:c.1438C>G | XP_016860103.1:p.Leu480Val | |
| XR_002959322.1:n.1529C>G | ||
| NM_000465.4:c.1339C>G MANE Select | NP_000456.2:p.Leu447Val | |
| NM_001282543.2:c.1282C>G | NP_001269472.1:p.Leu428Val | |
| NM_001282545.2:c.216-16733C>G | NP_001269474.1:n.216-16733C>G | |
| NM_001282548.2:c.159-16733C>G | NP_001269477.1:n.159-16733C>G | |
| NM_001282549.2:c.364+23009C>G | NP_001269478.1:n.364+23009C>G | |
| NR_104212.2:n.1304C>G | ||
| NR_104215.2:n.1247C>G | ||
| NR_104216.2:n.503C>G |