Linked Data
ClinVar Variation Id:
2147242
ClinVar RCV Id:
RCV003060795
dbSNP Id:
rs1868882490
gnomAD v4:
13-23338556-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338556T>A , CM000675.2:g.23338556T>A | GRCh38 |
| NC_000013.10:g.23912695T>A , CM000675.1:g.23912695T>A | GRCh37 |
| NC_000013.9:g.22810695T>A | NCBI36 |
| NG_012342.1:g.100147A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15229A>T | ENSP00000508399.1:n.2185+15229A>T | |
| ENST00000682944.1:c.5347A>T | ENSP00000507173.1:p.Ile1783Phe | |
| ENST00000683210.1:c.2185+15229A>T | ENSP00000506739.1:n.2185+15229A>T | |
| ENST00000683270.1:c.5311A>T | ENSP00000507624.1:p.Ile1771Phe | |
| ENST00000683367.1:c.2177-9072A>T | ENSP00000507780.1:n.2177-9072A>T | |
| ENST00000683489.1:c.2291+3029A>T | ENSP00000508403.1:n.2291+3029A>T | |
| ENST00000683680.1:c.2318+3029A>T | ENSP00000507223.1:n.2318+3029A>T | |
| ENST00000684163.1:c.2203+8255A>T | ENSP00000508262.1:n.2203+8255A>T | |
| ENST00000684196.1:n.4543-9072A>T | ||
| ENST00000684325.1:c.2185+15229A>T | ENSP00000508121.1:n.2185+15229A>T | |
| ENST00000684385.1:c.2220+8255A>T | ENSP00000507855.1:n.2220+8255A>T | |
| ENST00000684497.1:c.2185+15229A>T | ENSP00000507057.1:n.2185+15229A>T | |
| ENST00000382292.9:c.5320A>T MANE Select | ENSP00000371729.3:p.Ile1774Phe | |
| ENST00000423156.2:c.2186-9072A>T | ENSP00000390925.2:n.2186-9072A>T | |
| ENST00000455470.6:c.2431+2889A>T | ENSP00000406565.2:n.2431+2889A>T | |
| ENST00000382292.7:c.5320A>T | ENSP00000371729.3:p.Ile1774Phe | |
| ENST00000382298.7:c.5320A>T | ENSP00000371735.3:p.Ile1774Phe | |
| ENST00000402364.1:c.3070A>T | ENSP00000385844.1:p.Ile1024Phe | |
| ENST00000423156.1:c.1058-9072A>T | ENSP00000390925.1:n.1058-9072A>T | |
| ENST00000455470.5:c.2129+2889A>T | ||
| NM_001278055.1:c.4879A>T | NP_001264984.1:p.Ile1627Phe | |
| NM_014363.5:c.5320A>T | NP_055178.3:p.Ile1774Phe | |
| XM_005266338.1:c.5347A>T | XP_005266395.1:p.Ile1783Phe | |
| XM_011535038.1:c.5371A>T | XP_011533340.1:p.Ile1791Phe | |
| XM_011535039.1:c.5338A>T | XP_011533341.1:p.Ile1780Phe | |
| XM_005266338.2:c.5347A>T | XP_005266395.1:p.Ile1783Phe | |
| XM_011535039.2:c.5338A>T | XP_011533341.1:p.Ile1780Phe | |
| XM_017020539.1:c.5311A>T | XP_016876028.1:p.Ile1771Phe | |
| XM_024449337.1:c.5347A>T | XP_024305105.1:p.Ile1783Phe | |
| NM_014363.6:c.5320A>T MANE Select | NP_055178.3:p.Ile1774Phe | |
| NM_001278055.2:c.4879A>T | NP_001264984.1:p.Ile1627Phe |