Linked Data
ClinVar Variation Id:
2075406
ClinVar RCV Id:
RCV002967703
dbSNP Id:
rs1007562396
gnomAD v2:
13-23915775-A-G
gnomAD v3:
13-23341636-A-G
gnomAD v4:
13-23341636-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23341636A>G , CM000675.2:g.23341636A>G | GRCh38 |
| NC_000013.10:g.23915775A>G , CM000675.1:g.23915775A>G | GRCh37 |
| NC_000013.9:g.22813775A>G | NCBI36 |
| NG_012342.1:g.97067T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+12149T>C | ENSP00000508399.1:n.2185+12149T>C | |
| ENST00000682944.1:c.2267T>C | ENSP00000507173.1:p.Ile756Thr | |
| ENST00000683210.1:c.2185+12149T>C | ENSP00000506739.1:n.2185+12149T>C | |
| ENST00000683270.1:c.2231T>C | ENSP00000507624.1:p.Ile744Thr | |
| ENST00000683367.1:c.2176+12149T>C | ENSP00000507780.1:n.2176+12149T>C | |
| ENST00000683489.1:c.2240T>C | ENSP00000508403.1:p.Ile747Thr | |
| ENST00000683680.1:c.2267T>C | ENSP00000507223.1:p.Ile756Thr | |
| ENST00000684163.1:c.2203+5175T>C | ENSP00000508262.1:n.2203+5175T>C | |
| ENST00000684196.1:n.4542+12149T>C | ||
| ENST00000684325.1:c.2185+12149T>C | ENSP00000508121.1:n.2185+12149T>C | |
| ENST00000684385.1:c.2220+5175T>C | ENSP00000507855.1:n.2220+5175T>C | |
| ENST00000684497.1:c.2185+12149T>C | ENSP00000507057.1:n.2185+12149T>C | |
| ENST00000382292.9:c.2240T>C MANE Select | ENSP00000371729.3:p.Ile747Thr | |
| ENST00000423156.2:c.2185+12149T>C | ENSP00000390925.2:n.2185+12149T>C | |
| ENST00000455470.6:c.2240T>C | ENSP00000406565.2:p.Ile747Thr | |
| ENST00000382292.7:c.2240T>C | ENSP00000371729.3:p.Ile747Thr | |
| ENST00000382298.7:c.2240T>C | ENSP00000371735.3:p.Ile747Thr | |
| ENST00000402364.1:c.-11T>C | ENSP00000385844.1:n.-11T>C | |
| ENST00000423156.1:c.1057+12149T>C | ENSP00000390925.1:n.1057+12149T>C | |
| ENST00000455470.5:c.1938T>C | ||
| NM_001278055.1:c.1799T>C | NP_001264984.1:p.Ile600Thr | |
| NM_014363.5:c.2240T>C | NP_055178.3:p.Ile747Thr | |
| XM_005266338.1:c.2267T>C | XP_005266395.1:p.Ile756Thr | |
| XM_011535038.1:c.2291T>C | XP_011533340.1:p.Ile764Thr | |
| XM_011535039.1:c.2258T>C | XP_011533341.1:p.Ile753Thr | |
| XM_005266338.2:c.2267T>C | XP_005266395.1:p.Ile756Thr | |
| XM_011535039.2:c.2258T>C | XP_011533341.1:p.Ile753Thr | |
| XM_017020539.1:c.2231T>C | XP_016876028.1:p.Ile744Thr | |
| XM_024449337.1:c.2267T>C | XP_024305105.1:p.Ile756Thr | |
| NM_014363.6:c.2240T>C MANE Select | NP_055178.3:p.Ile747Thr | |
| NM_001278055.2:c.1799T>C | NP_001264984.1:p.Ile600Thr |