Linked Data
ClinVar Variation Id:
280809
dbSNP Id:
rs886041949
gnomAD v3:
13-23334571-A-T
gnomAD v4:
13-23334571-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334571A>T , CM000675.2:g.23334571A>T | GRCh38 |
| NC_000013.10:g.23908710A>T , CM000675.1:g.23908710A>T | GRCh37 |
| NC_000013.9:g.22806710A>T | NCBI36 |
| NG_012342.1:g.104132T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19214T>A | ENSP00000508399.1:n.2185+19214T>A | |
| ENST00000682944.1:c.9332T>A | ENSP00000507173.1:p.Leu3111Ter | |
| ENST00000683210.1:c.2185+19214T>A | ENSP00000506739.1:n.2185+19214T>A | |
| ENST00000683270.1:c.6445+2851T>A | ENSP00000507624.1:n.6445+2851T>A | |
| ENST00000683367.1:c.2177-5087T>A | ENSP00000507780.1:n.2177-5087T>A | |
| ENST00000683489.1:c.2292-4619T>A | ENSP00000508403.1:n.2292-4619T>A | |
| ENST00000683680.1:c.2319-4619T>A | ENSP00000507223.1:n.2319-4619T>A | |
| ENST00000684163.1:c.2204-5087T>A | ENSP00000508262.1:n.2204-5087T>A | |
| ENST00000684196.1:n.4543-5087T>A | ||
| ENST00000684325.1:c.2186-12897T>A | ENSP00000508121.1:n.2186-12897T>A | |
| ENST00000684385.1:c.2221-5087T>A | ENSP00000507855.1:n.2221-5087T>A | |
| ENST00000684497.1:c.2186-11927T>A | ENSP00000507057.1:n.2186-11927T>A | |
| ENST00000382292.9:c.9305T>A MANE Select | ENSP00000371729.3:p.Leu3102Ter | |
| ENST00000423156.2:c.2186-5087T>A | ENSP00000390925.2:n.2186-5087T>A | |
| ENST00000455470.6:c.2432-5087T>A | ENSP00000406565.2:n.2432-5087T>A | |
| ENST00000382292.7:c.9305T>A | ENSP00000371729.3:p.Leu3102Ter | |
| ENST00000382298.7:c.9305T>A | ENSP00000371735.3:p.Leu3102Ter | |
| ENST00000402364.1:c.7055T>A | ENSP00000385844.1:p.Leu2352Ter | |
| ENST00000423156.1:c.1058-5087T>A | ENSP00000390925.1:n.1058-5087T>A | |
| ENST00000455470.5:c.2130-5087T>A | ||
| NM_001278055.1:c.8864T>A | NP_001264984.1:p.Leu2955Ter | |
| NM_014363.5:c.9305T>A | NP_055178.3:p.Leu3102Ter | |
| XM_005266338.1:c.9332T>A | XP_005266395.1:p.Leu3111Ter | |
| XM_011535038.1:c.9356T>A | XP_011533340.1:p.Leu3119Ter | |
| XM_011535039.1:c.9323T>A | XP_011533341.1:p.Leu3108Ter | |
| XM_005266338.2:c.9332T>A | XP_005266395.1:p.Leu3111Ter | |
| XM_011535039.2:c.9323T>A | XP_011533341.1:p.Leu3108Ter | |
| XM_017020539.1:c.9296T>A | XP_016876028.1:p.Leu3099Ter | |
| XM_024449337.1:c.9332T>A | XP_024305105.1:p.Leu3111Ter | |
| NM_014363.6:c.9305T>A MANE Select | NP_055178.3:p.Leu3102Ter | |
| NM_001278055.2:c.8864T>A | NP_001264984.1:p.Leu2955Ter |