Linked Data
ClinVar Variation Id:
311518
dbSNP Id:
rs776028181
ExAC:
13:23909636 C / T
gnomAD v2:
13-23909636-C-T
gnomAD v3:
13-23335497-C-T
gnomAD v4:
13-23335497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23335497C>T , CM000675.2:g.23335497C>T | GRCh38 |
| NC_000013.10:g.23909636C>T , CM000675.1:g.23909636C>T | GRCh37 |
| NC_000013.9:g.22807636C>T | NCBI36 |
| NG_012342.1:g.103206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+18288G>A | ENSP00000508399.1:n.2185+18288G>A | |
| ENST00000682944.1:c.8406G>A | ENSP00000507173.1:p.Gln2802= | |
| ENST00000683210.1:c.2185+18288G>A | ENSP00000506739.1:n.2185+18288G>A | |
| ENST00000683270.1:c.6445+1925G>A | ENSP00000507624.1:n.6445+1925G>A | |
| ENST00000683367.1:c.2177-6013G>A | ENSP00000507780.1:n.2177-6013G>A | |
| ENST00000683489.1:c.2292-5545G>A | ENSP00000508403.1:n.2292-5545G>A | |
| ENST00000683680.1:c.2319-5545G>A | ENSP00000507223.1:n.2319-5545G>A | |
| ENST00000684163.1:c.2204-6013G>A | ENSP00000508262.1:n.2204-6013G>A | |
| ENST00000684196.1:n.4543-6013G>A | ||
| ENST00000684325.1:c.2186-13823G>A | ENSP00000508121.1:n.2186-13823G>A | |
| ENST00000684385.1:c.2221-6013G>A | ENSP00000507855.1:n.2221-6013G>A | |
| ENST00000684497.1:c.2186-12853G>A | ENSP00000507057.1:n.2186-12853G>A | |
| ENST00000382292.9:c.8379G>A MANE Select | ENSP00000371729.3:p.Gln2793= | |
| ENST00000423156.2:c.2186-6013G>A | ENSP00000390925.2:n.2186-6013G>A | |
| ENST00000455470.6:c.2431+5948G>A | ENSP00000406565.2:n.2431+5948G>A | |
| ENST00000382292.7:c.8379G>A | ENSP00000371729.3:p.Gln2793= | |
| ENST00000382298.7:c.8379G>A | ENSP00000371735.3:p.Gln2793= | |
| ENST00000402364.1:c.6129G>A | ENSP00000385844.1:p.Gln2043= | |
| ENST00000423156.1:c.1058-6013G>A | ENSP00000390925.1:n.1058-6013G>A | |
| ENST00000455470.5:c.2129+5948G>A | ||
| NM_001278055.1:c.7938G>A | NP_001264984.1:p.Gln2646= | |
| NM_014363.5:c.8379G>A | NP_055178.3:p.Gln2793= | |
| XM_005266338.1:c.8406G>A | XP_005266395.1:p.Gln2802= | |
| XM_011535038.1:c.8430G>A | XP_011533340.1:p.Gln2810= | |
| XM_011535039.1:c.8397G>A | XP_011533341.1:p.Gln2799= | |
| XM_005266338.2:c.8406G>A | XP_005266395.1:p.Gln2802= | |
| XM_011535039.2:c.8397G>A | XP_011533341.1:p.Gln2799= | |
| XM_017020539.1:c.8370G>A | XP_016876028.1:p.Gln2790= | |
| XM_024449337.1:c.8406G>A | XP_024305105.1:p.Gln2802= | |
| NM_014363.6:c.8379G>A MANE Select | NP_055178.3:p.Gln2793= | |
| NM_001278055.2:c.7938G>A | NP_001264984.1:p.Gln2646= |