Linked Data
ClinVar Variation Id:
429909
dbSNP Id:
rs746782589
ExAC:
13:23906278 C / G
gnomAD v2:
13-23906278-C-G
gnomAD v3:
13-23332139-C-G
gnomAD v4:
13-23332139-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23332139C>G , CM000675.2:g.23332139C>G | GRCh38 |
| NC_000013.10:g.23906278C>G , CM000675.1:g.23906278C>G | GRCh37 |
| NC_000013.9:g.22804278C>G | NCBI36 |
| NG_012342.1:g.106564G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2186-20024G>C | ENSP00000508399.1:n.2186-20024G>C | |
| ENST00000682944.1:c.11764G>C | ENSP00000507173.1:p.Asp3922His | |
| ENST00000683210.1:c.2185+21646G>C | ENSP00000506739.1:n.2185+21646G>C | |
| ENST00000683270.1:c.6446-2655G>C | ENSP00000507624.1:n.6446-2655G>C | |
| ENST00000683367.1:c.2177-2655G>C | ENSP00000507780.1:n.2177-2655G>C | |
| ENST00000683489.1:c.2292-2187G>C | ENSP00000508403.1:n.2292-2187G>C | |
| ENST00000683680.1:c.2319-2187G>C | ENSP00000507223.1:n.2319-2187G>C | |
| ENST00000684163.1:c.2204-2655G>C | ENSP00000508262.1:n.2204-2655G>C | |
| ENST00000684196.1:n.4543-2655G>C | ||
| ENST00000684325.1:c.2186-10465G>C | ENSP00000508121.1:n.2186-10465G>C | |
| ENST00000684385.1:c.2221-2655G>C | ENSP00000507855.1:n.2221-2655G>C | |
| ENST00000684497.1:c.2186-9495G>C | ENSP00000507057.1:n.2186-9495G>C | |
| ENST00000382292.9:c.11737G>C MANE Select | ENSP00000371729.3:p.Asp3913His | |
| ENST00000423156.2:c.2186-2655G>C | ENSP00000390925.2:n.2186-2655G>C | |
| ENST00000455470.6:c.2432-2655G>C | ENSP00000406565.2:n.2432-2655G>C | |
| ENST00000382292.7:c.11737G>C | ENSP00000371729.3:p.Asp3913His | |
| ENST00000382298.7:c.11737G>C | ENSP00000371735.3:p.Asp3913His | |
| ENST00000402364.1:c.9487G>C | ENSP00000385844.1:p.Asp3163His | |
| ENST00000423156.1:c.1058-2655G>C | ENSP00000390925.1:n.1058-2655G>C | |
| ENST00000455470.5:c.2130-2655G>C | ||
| NM_001278055.1:c.11296G>C | NP_001264984.1:p.Asp3766His | |
| NM_014363.5:c.11737G>C | NP_055178.3:p.Asp3913His | |
| XM_005266338.1:c.11764G>C | XP_005266395.1:p.Asp3922His | |
| XM_011535038.1:c.11788G>C | XP_011533340.1:p.Asp3930His | |
| XM_011535039.1:c.11755G>C | XP_011533341.1:p.Asp3919His | |
| XM_005266338.2:c.11764G>C | XP_005266395.1:p.Asp3922His | |
| XM_011535039.2:c.11755G>C | XP_011533341.1:p.Asp3919His | |
| XM_017020539.1:c.11728G>C | XP_016876028.1:p.Asp3910His | |
| XM_024449337.1:c.11764G>C | XP_024305105.1:p.Asp3922His | |
| NM_014363.6:c.11737G>C MANE Select | NP_055178.3:p.Asp3913His | |
| NM_001278055.2:c.11296G>C | NP_001264984.1:p.Asp3766His |