Linked Data
ClinVar Variation Id:
1331267
dbSNP Id:
rs369156879
ExAC:
12:49418606 C / T
gnomAD v2:
12-49418606-C-T
gnomAD v3:
12-49024823-C-T
gnomAD v4:
12-49024823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024823C>T , CM000674.2:g.49024823C>T | GRCh38 |
| NC_000012.11:g.49418606C>T , CM000674.1:g.49418606C>T | GRCh37 |
| NC_000012.10:g.47704873C>T | NCBI36 |
| NG_027827.1:g.35502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.580G>A | ||
| ENST00000683543.2:c.15908G>A | ENSP00000506726.1:p.Arg5303His | |
| ENST00000683863.1:n.1623G>A | ||
| ENST00000684428.1:c.443G>A | ENSP00000507433.1:p.Arg148His | |
| ENST00000684755.1:n.443G>A | ||
| ENST00000685024.1:c.1033G>A | ||
| ENST00000685166.1:c.15917G>A | ENSP00000509386.1:p.Arg5306His | |
| ENST00000688411.1:c.385G>A | ENSP00000510146.1:n.385G>A | |
| ENST00000691463.1:c.1294G>A | ENSP00000510624.1:n.1294G>A | |
| ENST00000692637.1:c.15905G>A | ENSP00000509666.1:p.Arg5302His | |
| ENST00000301067.12:c.15908G>A MANE Select | ENSP00000301067.7:p.Arg5303His | |
| ENST00000301067.11:c.15908G>A | ENSP00000301067.7:p.Arg5303His | |
| NM_003482.3:c.15908G>A | NP_003473.3:p.Arg5303His | |
| XM_005269162.3:c.15908G>A | XP_005269219.1:p.Arg5303His | |
| XM_006719614.2:c.15917G>A | XP_006719677.1:p.Arg5306His | |
| XM_006719616.2:c.15905G>A | XP_006719679.1:p.Arg5302His | |
| XM_011538770.1:c.15917G>A | XP_011537072.1:p.Arg5306His | |
| XM_011538771.1:c.15914G>A | XP_011537073.1:p.Arg5305His | |
| XM_011538772.1:c.15908G>A | XP_011537074.1:p.Arg5303His | |
| XM_011538773.1:c.15905G>A | XP_011537075.1:p.Arg5302His | |
| XM_011538774.1:c.15896G>A | XP_011537076.1:p.Arg5299His | |
| XM_011538775.1:c.15851G>A | XP_011537077.1:p.Arg5284His | |
| XM_011538776.1:c.15824G>A | XP_011537078.1:p.Arg5275His | |
| XR_944740.1:n.17096G>A | ||
| XM_005269162.4:c.15908G>A | XP_005269219.1:p.Arg5303His | |
| XM_006719614.4:c.15917G>A | XP_006719677.1:p.Arg5306His | |
| XM_006719616.3:c.15905G>A | XP_006719679.1:p.Arg5302His | |
| XM_011538770.2:c.15917G>A | XP_011537072.1:p.Arg5306His | |
| XM_011538771.2:c.15914G>A | XP_011537073.1:p.Arg5305His | |
| XM_011538772.2:c.15908G>A | XP_011537074.1:p.Arg5303His | |
| XM_011538773.2:c.15905G>A | XP_011537075.1:p.Arg5302His | |
| XM_011538774.2:c.15896G>A | XP_011537076.1:p.Arg5299His | |
| XM_011538776.2:c.15824G>A | XP_011537078.1:p.Arg5275His | |
| XR_001748874.1:n.16085G>A | ||
| NM_003482.4:c.15908G>A MANE Select | NP_003473.3:p.Arg5303His |