Linked Data
ClinVar Variation Id:
2919465
ClinVar RCV Id:
RCV003751591
dbSNP Id:
rs1228268410
gnomAD v2:
13-23907821-C-A
gnomAD v4:
13-23333682-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333682C>A , CM000675.2:g.23333682C>A | GRCh38 |
| NC_000013.10:g.23907821C>A , CM000675.1:g.23907821C>A | GRCh37 |
| NC_000013.9:g.22805821C>A | NCBI36 |
| NG_012342.1:g.105021G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+20103G>T | ENSP00000508399.1:n.2185+20103G>T | |
| ENST00000682944.1:c.10221G>T | ENSP00000507173.1:p.Leu3407Phe | |
| ENST00000683210.1:c.2185+20103G>T | ENSP00000506739.1:n.2185+20103G>T | |
| ENST00000683270.1:c.6445+3740G>T | ENSP00000507624.1:n.6445+3740G>T | |
| ENST00000683367.1:c.2177-4198G>T | ENSP00000507780.1:n.2177-4198G>T | |
| ENST00000683489.1:c.2292-3730G>T | ENSP00000508403.1:n.2292-3730G>T | |
| ENST00000683680.1:c.2319-3730G>T | ENSP00000507223.1:n.2319-3730G>T | |
| ENST00000684163.1:c.2204-4198G>T | ENSP00000508262.1:n.2204-4198G>T | |
| ENST00000684196.1:n.4543-4198G>T | ||
| ENST00000684325.1:c.2186-12008G>T | ENSP00000508121.1:n.2186-12008G>T | |
| ENST00000684385.1:c.2221-4198G>T | ENSP00000507855.1:n.2221-4198G>T | |
| ENST00000684497.1:c.2186-11038G>T | ENSP00000507057.1:n.2186-11038G>T | |
| ENST00000382292.9:c.10194G>T MANE Select | ENSP00000371729.3:p.Leu3398Phe | |
| ENST00000423156.2:c.2186-4198G>T | ENSP00000390925.2:n.2186-4198G>T | |
| ENST00000455470.6:c.2432-4198G>T | ENSP00000406565.2:n.2432-4198G>T | |
| ENST00000382292.7:c.10194G>T | ENSP00000371729.3:p.Leu3398Phe | |
| ENST00000382298.7:c.10194G>T | ENSP00000371735.3:p.Leu3398Phe | |
| ENST00000402364.1:c.7944G>T | ENSP00000385844.1:p.Leu2648Phe | |
| ENST00000423156.1:c.1058-4198G>T | ENSP00000390925.1:n.1058-4198G>T | |
| ENST00000455470.5:c.2130-4198G>T | ||
| NM_001278055.1:c.9753G>T | NP_001264984.1:p.Leu3251Phe | |
| NM_014363.5:c.10194G>T | NP_055178.3:p.Leu3398Phe | |
| XM_005266338.1:c.10221G>T | XP_005266395.1:p.Leu3407Phe | |
| XM_011535038.1:c.10245G>T | XP_011533340.1:p.Leu3415Phe | |
| XM_011535039.1:c.10212G>T | XP_011533341.1:p.Leu3404Phe | |
| XM_005266338.2:c.10221G>T | XP_005266395.1:p.Leu3407Phe | |
| XM_011535039.2:c.10212G>T | XP_011533341.1:p.Leu3404Phe | |
| XM_017020539.1:c.10185G>T | XP_016876028.1:p.Leu3395Phe | |
| XM_024449337.1:c.10221G>T | XP_024305105.1:p.Leu3407Phe | |
| NM_014363.6:c.10194G>T MANE Select | NP_055178.3:p.Leu3398Phe | |
| NM_001278055.2:c.9753G>T | NP_001264984.1:p.Leu3251Phe |