Linked Data
ClinVar Variation Id:
1209705
ClinVar RCV Id:
RCV001578941
dbSNP Id:
rs1868563918
gnomAD v4:
13-23336081-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336081C>G , CM000675.2:g.23336081C>G | GRCh38 |
| NC_000013.10:g.23910220C>G , CM000675.1:g.23910220C>G | GRCh37 |
| NC_000013.9:g.22808220C>G | NCBI36 |
| NG_012342.1:g.102622G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17704G>C | ENSP00000508399.1:n.2185+17704G>C | |
| ENST00000682944.1:c.7822G>C | ENSP00000507173.1:p.Asp2608His | |
| ENST00000683210.1:c.2185+17704G>C | ENSP00000506739.1:n.2185+17704G>C | |
| ENST00000683270.1:c.6445+1341G>C | ENSP00000507624.1:n.6445+1341G>C | |
| ENST00000683367.1:c.2177-6597G>C | ENSP00000507780.1:n.2177-6597G>C | |
| ENST00000683489.1:c.2291+5504G>C | ENSP00000508403.1:n.2291+5504G>C | |
| ENST00000683680.1:c.2318+5504G>C | ENSP00000507223.1:n.2318+5504G>C | |
| ENST00000684163.1:c.2204-6597G>C | ENSP00000508262.1:n.2204-6597G>C | |
| ENST00000684196.1:n.4543-6597G>C | ||
| ENST00000684325.1:c.2186-14407G>C | ENSP00000508121.1:n.2186-14407G>C | |
| ENST00000684385.1:c.2221-6597G>C | ENSP00000507855.1:n.2221-6597G>C | |
| ENST00000684497.1:c.2186-13437G>C | ENSP00000507057.1:n.2186-13437G>C | |
| ENST00000382292.9:c.7795G>C MANE Select | ENSP00000371729.3:p.Asp2599His | |
| ENST00000423156.2:c.2186-6597G>C | ENSP00000390925.2:n.2186-6597G>C | |
| ENST00000455470.6:c.2431+5364G>C | ENSP00000406565.2:n.2431+5364G>C | |
| ENST00000382292.7:c.7795G>C | ENSP00000371729.3:p.Asp2599His | |
| ENST00000382298.7:c.7795G>C | ENSP00000371735.3:p.Asp2599His | |
| ENST00000402364.1:c.5545G>C | ENSP00000385844.1:p.Asp1849His | |
| ENST00000423156.1:c.1058-6597G>C | ENSP00000390925.1:n.1058-6597G>C | |
| ENST00000455470.5:c.2129+5364G>C | ||
| NM_001278055.1:c.7354G>C | NP_001264984.1:p.Asp2452His | |
| NM_014363.5:c.7795G>C | NP_055178.3:p.Asp2599His | |
| XM_005266338.1:c.7822G>C | XP_005266395.1:p.Asp2608His | |
| XM_011535038.1:c.7846G>C | XP_011533340.1:p.Asp2616His | |
| XM_011535039.1:c.7813G>C | XP_011533341.1:p.Asp2605His | |
| XM_005266338.2:c.7822G>C | XP_005266395.1:p.Asp2608His | |
| XM_011535039.2:c.7813G>C | XP_011533341.1:p.Asp2605His | |
| XM_017020539.1:c.7786G>C | XP_016876028.1:p.Asp2596His | |
| XM_024449337.1:c.7822G>C | XP_024305105.1:p.Asp2608His | |
| NM_014363.6:c.7795G>C MANE Select | NP_055178.3:p.Asp2599His | |
| NM_001278055.2:c.7354G>C | NP_001264984.1:p.Asp2452His |