Linked Data
ClinVar Variation Id:
1399563
ClinVar RCV Id:
RCV001893823
dbSNP Id:
rs755920864
ExAC:
12:49418454 C / T
gnomAD v2:
12-49418454-C-T
gnomAD v3:
12-49024671-C-T
gnomAD v4:
12-49024671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024671C>T , CM000674.2:g.49024671C>T | GRCh38 |
| NC_000012.11:g.49418454C>T , CM000674.1:g.49418454C>T | GRCh37 |
| NC_000012.10:g.47704721C>T | NCBI36 |
| NG_027827.1:g.35654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.631G>A | ||
| ENST00000683543.2:c.15959G>A | ENSP00000506726.1:p.Arg5320His | |
| ENST00000683863.1:n.1674G>A | ||
| ENST00000684428.1:c.494G>A | ENSP00000507433.1:p.Arg165His | |
| ENST00000684755.1:n.494G>A | ||
| ENST00000685024.1:c.1113G>A | ||
| ENST00000685166.1:c.15968G>A | ENSP00000509386.1:p.Arg5323His | |
| ENST00000688411.1:c.436G>A | ENSP00000510146.1:n.436G>A | |
| ENST00000691932.1:c.38G>A | ENSP00000509037.1:p.Arg13His | |
| ENST00000692637.1:c.15956G>A | ENSP00000509666.1:p.Arg5319His | |
| ENST00000301067.12:c.15959G>A MANE Select | ENSP00000301067.7:p.Arg5320His | |
| ENST00000301067.11:c.15959G>A | ENSP00000301067.7:p.Arg5320His | |
| NM_003482.3:c.15959G>A | NP_003473.3:p.Arg5320His | |
| XM_005269162.3:c.15959G>A | XP_005269219.1:p.Arg5320His | |
| XM_006719614.2:c.15968G>A | XP_006719677.1:p.Arg5323His | |
| XM_006719616.2:c.15956G>A | XP_006719679.1:p.Arg5319His | |
| XM_011538770.1:c.15968G>A | XP_011537072.1:p.Arg5323His | |
| XM_011538771.1:c.15965G>A | XP_011537073.1:p.Arg5322His | |
| XM_011538772.1:c.15959G>A | XP_011537074.1:p.Arg5320His | |
| XM_011538773.1:c.15956G>A | XP_011537075.1:p.Arg5319His | |
| XM_011538774.1:c.15947G>A | XP_011537076.1:p.Arg5316His | |
| XM_011538775.1:c.15902G>A | XP_011537077.1:p.Arg5301His | |
| XM_011538776.1:c.15875G>A | XP_011537078.1:p.Arg5292His | |
| XM_005269162.4:c.15959G>A | XP_005269219.1:p.Arg5320His | |
| XM_006719614.4:c.15968G>A | XP_006719677.1:p.Arg5323His | |
| XM_006719616.3:c.15956G>A | XP_006719679.1:p.Arg5319His | |
| XM_011538770.2:c.15968G>A | XP_011537072.1:p.Arg5323His | |
| XM_011538771.2:c.15965G>A | XP_011537073.1:p.Arg5322His | |
| XM_011538772.2:c.15959G>A | XP_011537074.1:p.Arg5320His | |
| XM_011538773.2:c.15956G>A | XP_011537075.1:p.Arg5319His | |
| XM_011538774.2:c.15947G>A | XP_011537076.1:p.Arg5316His | |
| XM_011538776.2:c.15875G>A | XP_011537078.1:p.Arg5292His | |
| XR_001748874.1:n.16136G>A | ||
| NM_003482.4:c.15959G>A MANE Select | NP_003473.3:p.Arg5320His |