Linked Data
ClinVar Variation Id:
448216
ClinVar RCV Id:
RCV000518764
dbSNP Id:
rs771923767
ExAC:
13:23911450 A / C
gnomAD v3:
13-23337311-A-C
gnomAD v4:
13-23337311-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337311A>C , CM000675.2:g.23337311A>C | GRCh38 |
| NC_000013.10:g.23911450A>C , CM000675.1:g.23911450A>C | GRCh37 |
| NC_000013.9:g.22809450A>C | NCBI36 |
| NG_012342.1:g.101392T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+16474T>G | ENSP00000508399.1:n.2185+16474T>G | |
| ENST00000682944.1:c.6592T>G | ENSP00000507173.1:p.Leu2198Val | |
| ENST00000683210.1:c.2185+16474T>G | ENSP00000506739.1:n.2185+16474T>G | |
| ENST00000683270.1:c.6445+111T>G | ENSP00000507624.1:n.6445+111T>G | |
| ENST00000683367.1:c.2177-7827T>G | ENSP00000507780.1:n.2177-7827T>G | |
| ENST00000683489.1:c.2291+4274T>G | ENSP00000508403.1:n.2291+4274T>G | |
| ENST00000683680.1:c.2318+4274T>G | ENSP00000507223.1:n.2318+4274T>G | |
| ENST00000684163.1:c.2204-7827T>G | ENSP00000508262.1:n.2204-7827T>G | |
| ENST00000684196.1:n.4543-7827T>G | ||
| ENST00000684325.1:c.2186-15637T>G | ENSP00000508121.1:n.2186-15637T>G | |
| ENST00000684385.1:c.2221-7827T>G | ENSP00000507855.1:n.2221-7827T>G | |
| ENST00000684497.1:c.2186-14667T>G | ENSP00000507057.1:n.2186-14667T>G | |
| ENST00000382292.9:c.6565T>G MANE Select | ENSP00000371729.3:p.Leu2189Val | |
| ENST00000423156.2:c.2186-7827T>G | ENSP00000390925.2:n.2186-7827T>G | |
| ENST00000455470.6:c.2431+4134T>G | ENSP00000406565.2:n.2431+4134T>G | |
| ENST00000382292.7:c.6565T>G | ENSP00000371729.3:p.Leu2189Val | |
| ENST00000382298.7:c.6565T>G | ENSP00000371735.3:p.Leu2189Val | |
| ENST00000402364.1:c.4315T>G | ENSP00000385844.1:p.Leu1439Val | |
| ENST00000423156.1:c.1058-7827T>G | ENSP00000390925.1:n.1058-7827T>G | |
| ENST00000455470.5:c.2129+4134T>G | ||
| NM_001278055.1:c.6124T>G | NP_001264984.1:p.Leu2042Val | |
| NM_014363.5:c.6565T>G | NP_055178.3:p.Leu2189Val | |
| XM_005266338.1:c.6592T>G | XP_005266395.1:p.Leu2198Val | |
| XM_011535038.1:c.6616T>G | XP_011533340.1:p.Leu2206Val | |
| XM_011535039.1:c.6583T>G | XP_011533341.1:p.Leu2195Val | |
| XM_005266338.2:c.6592T>G | XP_005266395.1:p.Leu2198Val | |
| XM_011535039.2:c.6583T>G | XP_011533341.1:p.Leu2195Val | |
| XM_017020539.1:c.6556T>G | XP_016876028.1:p.Leu2186Val | |
| XM_024449337.1:c.6592T>G | XP_024305105.1:p.Leu2198Val | |
| NM_014363.6:c.6565T>G MANE Select | NP_055178.3:p.Leu2189Val | |
| NM_001278055.2:c.6124T>G | NP_001264984.1:p.Leu2042Val |