Linked Data
ClinVar Variation Id:
1079066
ClinVar RCV Id:
RCV001394212
dbSNP Id:
rs1314146678
gnomAD v2:
13-23932502-A-G
gnomAD v4:
13-23358363-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23358363A>G , CM000675.2:g.23358363A>G | GRCh38 |
| NC_000013.10:g.23932502A>G , CM000675.1:g.23932502A>G | GRCh37 |
| NC_000013.9:g.22830502A>G | NCBI36 |
| NG_012342.1:g.80340T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.576T>C | ENSP00000508399.1:p.Ile192= | |
| ENST00000682944.1:c.576T>C | ENSP00000507173.1:p.Ile192= | |
| ENST00000683154.1:n.714T>C | ||
| ENST00000683210.1:c.576T>C | ENSP00000506739.1:p.Ile192= | |
| ENST00000683270.1:c.567T>C | ENSP00000507624.1:p.Ile189= | |
| ENST00000683367.1:c.567T>C | ENSP00000507780.1:p.Ile189= | |
| ENST00000683489.1:c.576T>C | ENSP00000508403.1:p.Ile192= | |
| ENST00000683680.1:c.576T>C | ENSP00000507223.1:p.Ile192= | |
| ENST00000684163.1:c.567T>C | ENSP00000508262.1:p.Ile189= | |
| ENST00000684196.1:n.2933T>C | ||
| ENST00000684325.1:c.576T>C | ENSP00000508121.1:p.Ile192= | |
| ENST00000684385.1:c.576T>C | ENSP00000507855.1:p.Ile192= | |
| ENST00000684497.1:c.576T>C | ENSP00000507057.1:p.Ile192= | |
| ENST00000382292.9:c.576T>C MANE Select | ENSP00000371729.3:p.Ile192= | |
| ENST00000423156.2:c.576T>C | ENSP00000390925.2:p.Ile192= | |
| ENST00000455470.6:c.576T>C | ENSP00000406565.2:p.Ile192= | |
| ENST00000382292.7:c.576T>C | ENSP00000371729.3:p.Ile192= | |
| ENST00000382298.7:c.576T>C | ENSP00000371735.3:p.Ile192= | |
| ENST00000402364.1:c.-1675T>C | ENSP00000385844.1:n.-1675T>C | |
| ENST00000455470.5:c.274T>C | ||
| NM_001278055.1:c.135T>C | NP_001264984.1:p.Ile45= | |
| NM_014363.5:c.576T>C | NP_055178.3:p.Ile192= | |
| XM_005266338.1:c.576T>C | XP_005266395.1:p.Ile192= | |
| XM_011535038.1:c.600T>C | XP_011533340.1:p.Ile200= | |
| XM_011535039.1:c.567T>C | XP_011533341.1:p.Ile189= | |
| XM_005266338.2:c.576T>C | XP_005266395.1:p.Ile192= | |
| XM_011535039.2:c.567T>C | XP_011533341.1:p.Ile189= | |
| XM_017020539.1:c.567T>C | XP_016876028.1:p.Ile189= | |
| XM_024449337.1:c.576T>C | XP_024305105.1:p.Ile192= | |
| NM_014363.6:c.576T>C MANE Select | NP_055178.3:p.Ile192= | |
| NM_001278055.2:c.135T>C | NP_001264984.1:p.Ile45= |