Linked Data
ClinVar Variation Id:
281206
dbSNP Id:
rs371869943
ExAC:
13:23915019 A / G
gnomAD v2:
13-23915019-A-G
gnomAD v3:
13-23340880-A-G
gnomAD v4:
13-23340880-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340880A>G , CM000675.2:g.23340880A>G | GRCh38 |
| NC_000013.10:g.23915019A>G , CM000675.1:g.23915019A>G | GRCh37 |
| NC_000013.9:g.22813019A>G | NCBI36 |
| NG_012342.1:g.97823T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+12905T>C | ENSP00000508399.1:n.2185+12905T>C | |
| ENST00000682944.1:c.3023T>C | ENSP00000507173.1:p.Ile1008Thr | |
| ENST00000683210.1:c.2185+12905T>C | ENSP00000506739.1:n.2185+12905T>C | |
| ENST00000683270.1:c.2987T>C | ENSP00000507624.1:p.Ile996Thr | |
| ENST00000683367.1:c.2177-11396T>C | ENSP00000507780.1:n.2177-11396T>C | |
| ENST00000683489.1:c.2291+705T>C | ENSP00000508403.1:n.2291+705T>C | |
| ENST00000683680.1:c.2318+705T>C | ENSP00000507223.1:n.2318+705T>C | |
| ENST00000684163.1:c.2203+5931T>C | ENSP00000508262.1:n.2203+5931T>C | |
| ENST00000684196.1:n.4543-11396T>C | ||
| ENST00000684325.1:c.2185+12905T>C | ENSP00000508121.1:n.2185+12905T>C | |
| ENST00000684385.1:c.2220+5931T>C | ENSP00000507855.1:n.2220+5931T>C | |
| ENST00000684497.1:c.2185+12905T>C | ENSP00000507057.1:n.2185+12905T>C | |
| ENST00000382292.9:c.2996T>C MANE Select | ENSP00000371729.3:p.Ile999Thr | |
| ENST00000423156.2:c.2186-11396T>C | ENSP00000390925.2:n.2186-11396T>C | |
| ENST00000455470.6:c.2431+565T>C | ENSP00000406565.2:n.2431+565T>C | |
| ENST00000382292.7:c.2996T>C | ENSP00000371729.3:p.Ile999Thr | |
| ENST00000382298.7:c.2996T>C | ENSP00000371735.3:p.Ile999Thr | |
| ENST00000402364.1:c.746T>C | ENSP00000385844.1:p.Ile249Thr | |
| ENST00000423156.1:c.1058-11396T>C | ENSP00000390925.1:n.1058-11396T>C | |
| ENST00000455470.5:c.2129+565T>C | ||
| NM_001278055.1:c.2555T>C | NP_001264984.1:p.Ile852Thr | |
| NM_014363.5:c.2996T>C | NP_055178.3:p.Ile999Thr | |
| XM_005266338.1:c.3023T>C | XP_005266395.1:p.Ile1008Thr | |
| XM_011535038.1:c.3047T>C | XP_011533340.1:p.Ile1016Thr | |
| XM_011535039.1:c.3014T>C | XP_011533341.1:p.Ile1005Thr | |
| XM_005266338.2:c.3023T>C | XP_005266395.1:p.Ile1008Thr | |
| XM_011535039.2:c.3014T>C | XP_011533341.1:p.Ile1005Thr | |
| XM_017020539.1:c.2987T>C | XP_016876028.1:p.Ile996Thr | |
| XM_024449337.1:c.3023T>C | XP_024305105.1:p.Ile1008Thr | |
| NM_014363.6:c.2996T>C MANE Select | NP_055178.3:p.Ile999Thr | |
| NM_001278055.2:c.2555T>C | NP_001264984.1:p.Ile852Thr |