Linked Data
ClinVar Variation Id:
1105972
ClinVar RCV Id:
RCV001430553
dbSNP Id:
rs750789221
ExAC:
13:23912270 A / G
gnomAD v2:
13-23912270-A-G
gnomAD v4:
13-23338131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338131A>G , CM000675.2:g.23338131A>G | GRCh38 |
| NC_000013.10:g.23912270A>G , CM000675.1:g.23912270A>G | GRCh37 |
| NC_000013.9:g.22810270A>G | NCBI36 |
| NG_012342.1:g.100572T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+15654T>C | ENSP00000508399.1:n.2185+15654T>C | |
| ENST00000682944.1:c.5772T>C | ENSP00000507173.1:p.His1924= | |
| ENST00000683210.1:c.2185+15654T>C | ENSP00000506739.1:n.2185+15654T>C | |
| ENST00000683270.1:c.5736T>C | ENSP00000507624.1:p.His1912= | |
| ENST00000683367.1:c.2177-8647T>C | ENSP00000507780.1:n.2177-8647T>C | |
| ENST00000683489.1:c.2291+3454T>C | ENSP00000508403.1:n.2291+3454T>C | |
| ENST00000683680.1:c.2318+3454T>C | ENSP00000507223.1:n.2318+3454T>C | |
| ENST00000684163.1:c.2204-8647T>C | ENSP00000508262.1:n.2204-8647T>C | |
| ENST00000684196.1:n.4543-8647T>C | ||
| ENST00000684325.1:c.2185+15654T>C | ENSP00000508121.1:n.2185+15654T>C | |
| ENST00000684385.1:c.2221-8647T>C | ENSP00000507855.1:n.2221-8647T>C | |
| ENST00000684497.1:c.2186-15487T>C | ENSP00000507057.1:n.2186-15487T>C | |
| ENST00000382292.9:c.5745T>C MANE Select | ENSP00000371729.3:p.His1915= | |
| ENST00000423156.2:c.2186-8647T>C | ENSP00000390925.2:n.2186-8647T>C | |
| ENST00000455470.6:c.2431+3314T>C | ENSP00000406565.2:n.2431+3314T>C | |
| ENST00000382292.7:c.5745T>C | ENSP00000371729.3:p.His1915= | |
| ENST00000382298.7:c.5745T>C | ENSP00000371735.3:p.His1915= | |
| ENST00000402364.1:c.3495T>C | ENSP00000385844.1:p.His1165= | |
| ENST00000423156.1:c.1058-8647T>C | ENSP00000390925.1:n.1058-8647T>C | |
| ENST00000455470.5:c.2129+3314T>C | ||
| NM_001278055.1:c.5304T>C | NP_001264984.1:p.His1768= | |
| NM_014363.5:c.5745T>C | NP_055178.3:p.His1915= | |
| XM_005266338.1:c.5772T>C | XP_005266395.1:p.His1924= | |
| XM_011535038.1:c.5796T>C | XP_011533340.1:p.His1932= | |
| XM_011535039.1:c.5763T>C | XP_011533341.1:p.His1921= | |
| XM_005266338.2:c.5772T>C | XP_005266395.1:p.His1924= | |
| XM_011535039.2:c.5763T>C | XP_011533341.1:p.His1921= | |
| XM_017020539.1:c.5736T>C | XP_016876028.1:p.His1912= | |
| XM_024449337.1:c.5772T>C | XP_024305105.1:p.His1924= | |
| NM_014363.6:c.5745T>C MANE Select | NP_055178.3:p.His1915= | |
| NM_001278055.2:c.5304T>C | NP_001264984.1:p.His1768= |