Linked Data
ClinVar Variation Id:
196893
dbSNP Id:
rs770885860
ExAC:
12:49432215 C / T
gnomAD v2:
12-49432215-C-T
gnomAD v3:
12-49038432-C-T
gnomAD v4:
12-49038432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49038432C>T , CM000674.2:g.49038432C>T | GRCh38 |
| NC_000012.11:g.49432215C>T , CM000674.1:g.49432215C>T | GRCh37 |
| NC_000012.10:g.47718482C>T | NCBI36 |
| NG_027827.1:g.21893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683043.1:n.623G>A | ||
| ENST00000683543.2:c.8924G>A | ENSP00000506726.1:p.Arg2975His | |
| ENST00000685166.1:c.8933G>A | ENSP00000509386.1:p.Arg2978His | |
| ENST00000687201.1:c.488G>A | ENSP00000510037.1:p.Arg163His | |
| ENST00000689143.1:c.2527G>A | ENSP00000509839.1:n.2527G>A | |
| ENST00000692637.1:c.8921G>A | ENSP00000509666.1:p.Arg2974His | |
| ENST00000692841.1:c.488G>A | ENSP00000508711.1:p.Arg163His | |
| ENST00000301067.12:c.8924G>A MANE Select | ENSP00000301067.7:p.Arg2975His | |
| ENST00000301067.11:c.8924G>A | ENSP00000301067.7:p.Arg2975His | |
| NM_003482.3:c.8924G>A | NP_003473.3:p.Arg2975His | |
| XM_005269162.3:c.8924G>A | XP_005269219.1:p.Arg2975His | |
| XM_006719614.2:c.8933G>A | XP_006719677.1:p.Arg2978His | |
| XM_006719616.2:c.8921G>A | XP_006719679.1:p.Arg2974His | |
| XM_011538770.1:c.8933G>A | XP_011537072.1:p.Arg2978His | |
| XM_011538771.1:c.8930G>A | XP_011537073.1:p.Arg2977His | |
| XM_011538772.1:c.8924G>A | XP_011537074.1:p.Arg2975His | |
| XM_011538773.1:c.8921G>A | XP_011537075.1:p.Arg2974His | |
| XM_011538774.1:c.8912G>A | XP_011537076.1:p.Arg2971His | |
| XM_011538775.1:c.8933G>A | XP_011537077.1:p.Arg2978His | |
| XM_011538776.1:c.8840G>A | XP_011537078.1:p.Arg2947His | |
| XR_944740.1:n.11253G>A | ||
| XM_005269162.4:c.8924G>A | XP_005269219.1:p.Arg2975His | |
| XM_006719614.4:c.8933G>A | XP_006719677.1:p.Arg2978His | |
| XM_006719616.3:c.8921G>A | XP_006719679.1:p.Arg2974His | |
| XM_011538770.2:c.8933G>A | XP_011537072.1:p.Arg2978His | |
| XM_011538771.2:c.8930G>A | XP_011537073.1:p.Arg2977His | |
| XM_011538772.2:c.8924G>A | XP_011537074.1:p.Arg2975His | |
| XM_011538773.2:c.8921G>A | XP_011537075.1:p.Arg2974His | |
| XM_011538774.2:c.8912G>A | XP_011537076.1:p.Arg2971His | |
| XM_011538776.2:c.8840G>A | XP_011537078.1:p.Arg2947His | |
| XR_001748874.1:n.10242G>A | ||
| NM_003482.4:c.8924G>A MANE Select | NP_003473.3:p.Arg2975His |