Linked Data
ClinVar Variation Id:
142233
dbSNP Id:
rs587782325
ExAC:
2:215645652 A / C
gnomAD v2:
2-215645652-A-C
gnomAD v3:
2-214780928-A-C
gnomAD v4:
2-214780928-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214780928A>C , CM000664.2:g.214780928A>C | GRCh38 |
| NC_000002.11:g.215645652A>C , CM000664.1:g.215645652A>C | GRCh37 |
| NC_000002.10:g.215353897A>C | NCBI36 |
| NG_012047.2:g.33777T>G | |
| NG_012047.3:g.33784T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.946T>G MANE Select | ENSP00000260947.4:p.Leu316Val | |
| ENST00000421162.2:c.215+16133T>G | ENSP00000392245.2:n.215+16133T>G | |
| ENST00000613192.2:c.158+28484T>G | ENSP00000483275.2:n.158+28484T>G | |
| ENST00000613374.5:c.159-28373T>G | ENSP00000484464.1:n.159-28373T>G | |
| ENST00000613706.5:c.906+40T>G | ENSP00000484976.2:n.906+40T>G | |
| ENST00000617164.5:c.889T>G | ENSP00000480470.1:p.Leu297Val | |
| ENST00000619009.5:c.364+11369T>G | ENSP00000482293.1:n.364+11369T>G | |
| ENST00000650978.1:c.788T>G | ||
| ENST00000260947.8:c.946T>G | ENSP00000260947.4:p.Leu316Val | |
| ENST00000421162.1:c.215+16133T>G | ENSP00000392245.1:n.215+16133T>G | |
| ENST00000455743.5:c.*566T>G | ENSP00000412186.1:n.*566T>G | |
| ENST00000471787.1:n.841T>G | ||
| ENST00000613192.1:c.73+28484T>G | ENSP00000483275.1:n.73+28484T>G | |
| ENST00000613374.4:c.159-28373T>G | ENSP00000484464.1:n.159-28373T>G | |
| ENST00000613706.4:c.215+16133T>G | ENSP00000484976.1:n.215+16133T>G | |
| ENST00000617164.4:c.889T>G | ENSP00000480470.1:p.Leu297Val | |
| ENST00000619009.4:c.364+11369T>G | ENSP00000482293.1:n.364+11369T>G | |
| ENST00000620057.4:c.364+11369T>G | ENSP00000481988.1:n.364+11369T>G | |
| NM_000465.3:c.946T>G | NP_000456.2:p.Leu316Val | |
| NM_001282543.1:c.889T>G | NP_001269472.1:p.Leu297Val | |
| NM_001282545.1:c.215+16133T>G | NP_001269474.1:n.215+16133T>G | |
| NM_001282548.1:c.159-28373T>G | NP_001269477.1:n.159-28373T>G | |
| NM_001282549.1:c.364+11369T>G | NP_001269478.1:n.364+11369T>G | |
| NR_104212.1:n.939T>G | ||
| NR_104215.1:n.882T>G | ||
| NR_104216.1:n.506+11369T>G | ||
| XM_011511567.1:c.892T>G | XP_011509869.1:p.Leu298Val | |
| XM_011511568.1:c.946T>G | XP_011509870.1:p.Leu316Val | |
| XM_017004613.1:c.1045T>G | XP_016860102.1:p.Leu349Val | |
| XM_017004614.1:c.1045T>G | XP_016860103.1:p.Leu349Val | |
| XR_002959322.1:n.1136T>G | ||
| NM_000465.4:c.946T>G MANE Select | NP_000456.2:p.Leu316Val | |
| NM_001282543.2:c.889T>G | NP_001269472.1:p.Leu297Val | |
| NM_001282545.2:c.215+16133T>G | NP_001269474.1:n.215+16133T>G | |
| NM_001282548.2:c.159-28373T>G | NP_001269477.1:n.159-28373T>G | |
| NM_001282549.2:c.364+11369T>G | NP_001269478.1:n.364+11369T>G | |
| NR_104212.2:n.911T>G | ||
| NR_104215.2:n.854T>G | ||
| NR_104216.2:n.478+11369T>G |