Linked Data
ClinVar Variation Id:
193707
dbSNP Id:
rs34382952
ExAC:
13:23904298 T / G
gnomAD v2:
13-23904298-T-G
gnomAD v3:
13-23330159-T-G
gnomAD v4:
13-23330159-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23330159T>G , CM000675.2:g.23330159T>G | GRCh38 |
| NC_000013.10:g.23904298T>G , CM000675.1:g.23904298T>G | GRCh37 |
| NC_000013.9:g.22802298T>G | NCBI36 |
| NG_012342.1:g.108544A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-18044A>C | ENSP00000508399.1:n.2186-18044A>C | |
| ENST00000682944.1:c.13744A>C | ENSP00000507173.1:p.Asn4582His | |
| ENST00000683210.1:c.2185+23626A>C | ENSP00000506739.1:n.2185+23626A>C | |
| ENST00000683270.1:c.6446-675A>C | ENSP00000507624.1:n.6446-675A>C | |
| ENST00000683367.1:c.2177-675A>C | ENSP00000507780.1:n.2177-675A>C | |
| ENST00000683489.1:c.2292-207A>C | ENSP00000508403.1:n.2292-207A>C | |
| ENST00000683680.1:c.2319-207A>C | ENSP00000507223.1:n.2319-207A>C | |
| ENST00000684163.1:c.2204-675A>C | ENSP00000508262.1:n.2204-675A>C | |
| ENST00000684196.1:n.4543-675A>C | ||
| ENST00000684325.1:c.2186-8485A>C | ENSP00000508121.1:n.2186-8485A>C | |
| ENST00000684385.1:c.2221-675A>C | ENSP00000507855.1:n.2221-675A>C | |
| ENST00000684497.1:c.2186-7515A>C | ENSP00000507057.1:n.2186-7515A>C | |
| ENST00000382292.9:c.13717A>C MANE Select | ENSP00000371729.3:p.Asn4573His | |
| ENST00000423156.2:c.2186-675A>C | ENSP00000390925.2:n.2186-675A>C | |
| ENST00000455470.6:c.2432-675A>C | ENSP00000406565.2:n.2432-675A>C | |
| ENST00000382292.7:c.13717A>C | ENSP00000371729.3:p.Asn4573His | |
| ENST00000382298.7:c.13717A>C | ENSP00000371735.3:p.Asn4573His | |
| ENST00000402364.1:c.11467A>C | ENSP00000385844.1:p.Asn3823His | |
| ENST00000423156.1:c.1058-675A>C | ENSP00000390925.1:n.1058-675A>C | |
| ENST00000455470.5:c.2130-675A>C | ||
| NM_001278055.1:c.13276A>C | NP_001264984.1:p.Asn4426His | |
| NM_014363.5:c.13717A>C | NP_055178.3:p.Asn4573His | |
| XM_005266338.1:c.13744A>C | XP_005266395.1:p.Asn4582His | |
| XM_011535038.1:c.13768A>C | XP_011533340.1:p.Asn4590His | |
| XM_011535039.1:c.13735A>C | XP_011533341.1:p.Asn4579His | |
| XM_005266338.2:c.13744A>C | XP_005266395.1:p.Asn4582His | |
| XM_011535039.2:c.13735A>C | XP_011533341.1:p.Asn4579His | |
| XM_017020539.1:c.13708A>C | XP_016876028.1:p.Asn4570His | |
| XM_024449337.1:c.13744A>C | XP_024305105.1:p.Asn4582His | |
| NM_014363.6:c.13717A>C MANE Select | NP_055178.3:p.Asn4573His | |
| NM_001278055.2:c.13276A>C | NP_001264984.1:p.Asn4426His |