Linked Data
ClinVar Variation Id:
2200968
ClinVar RCV Id:
RCV002654865
dbSNP Id:
rs781029021
ExAC:
13:23905131 G / T
gnomAD v2:
13-23905131-G-T
gnomAD v3:
13-23330992-G-T
gnomAD v4:
13-23330992-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23330992G>T , CM000675.2:g.23330992G>T | GRCh38 |
| NC_000013.10:g.23905131G>T , CM000675.1:g.23905131G>T | GRCh37 |
| NC_000013.9:g.22803131G>T | NCBI36 |
| NG_012342.1:g.107711C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-18877C>A | ENSP00000508399.1:n.2186-18877C>A | |
| ENST00000682944.1:c.12911C>A | ENSP00000507173.1:p.Pro4304His | |
| ENST00000683210.1:c.2185+22793C>A | ENSP00000506739.1:n.2185+22793C>A | |
| ENST00000683270.1:c.6446-1508C>A | ENSP00000507624.1:n.6446-1508C>A | |
| ENST00000683367.1:c.2177-1508C>A | ENSP00000507780.1:n.2177-1508C>A | |
| ENST00000683489.1:c.2292-1040C>A | ENSP00000508403.1:n.2292-1040C>A | |
| ENST00000683680.1:c.2319-1040C>A | ENSP00000507223.1:n.2319-1040C>A | |
| ENST00000684163.1:c.2204-1508C>A | ENSP00000508262.1:n.2204-1508C>A | |
| ENST00000684196.1:n.4543-1508C>A | ||
| ENST00000684325.1:c.2186-9318C>A | ENSP00000508121.1:n.2186-9318C>A | |
| ENST00000684385.1:c.2221-1508C>A | ENSP00000507855.1:n.2221-1508C>A | |
| ENST00000684497.1:c.2186-8348C>A | ENSP00000507057.1:n.2186-8348C>A | |
| ENST00000382292.9:c.12884C>A MANE Select | ENSP00000371729.3:p.Pro4295His | |
| ENST00000423156.2:c.2186-1508C>A | ENSP00000390925.2:n.2186-1508C>A | |
| ENST00000455470.6:c.2432-1508C>A | ENSP00000406565.2:n.2432-1508C>A | |
| ENST00000382292.7:c.12884C>A | ENSP00000371729.3:p.Pro4295His | |
| ENST00000382298.7:c.12884C>A | ENSP00000371735.3:p.Pro4295His | |
| ENST00000402364.1:c.10634C>A | ENSP00000385844.1:p.Pro3545His | |
| ENST00000423156.1:c.1058-1508C>A | ENSP00000390925.1:n.1058-1508C>A | |
| ENST00000455470.5:c.2130-1508C>A | ||
| NM_001278055.1:c.12443C>A | NP_001264984.1:p.Pro4148His | |
| NM_014363.5:c.12884C>A | NP_055178.3:p.Pro4295His | |
| XM_005266338.1:c.12911C>A | XP_005266395.1:p.Pro4304His | |
| XM_011535038.1:c.12935C>A | XP_011533340.1:p.Pro4312His | |
| XM_011535039.1:c.12902C>A | XP_011533341.1:p.Pro4301His | |
| XM_005266338.2:c.12911C>A | XP_005266395.1:p.Pro4304His | |
| XM_011535039.2:c.12902C>A | XP_011533341.1:p.Pro4301His | |
| XM_017020539.1:c.12875C>A | XP_016876028.1:p.Pro4292His | |
| XM_024449337.1:c.12911C>A | XP_024305105.1:p.Pro4304His | |
| NM_014363.6:c.12884C>A MANE Select | NP_055178.3:p.Pro4295His | |
| NM_001278055.2:c.12443C>A | NP_001264984.1:p.Pro4148His |