Linked Data
ClinVar Variation Id:
445613
dbSNP Id:
rs201681639
ExAC:
12:49432561 G / A
gnomAD v2:
12-49432561-G-A
gnomAD v3:
12-49038778-G-A
gnomAD v4:
12-49038778-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49038778G>A , CM000674.2:g.49038778G>A | GRCh38 |
| NC_000012.11:g.49432561G>A , CM000674.1:g.49432561G>A | GRCh37 |
| NC_000012.10:g.47718828G>A | NCBI36 |
| NG_027827.1:g.21547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683043.1:n.277C>T | ||
| ENST00000683543.2:c.8578C>T | ENSP00000506726.1:p.Arg2860Cys | |
| ENST00000685166.1:c.8587C>T | ENSP00000509386.1:p.Arg2863Cys | |
| ENST00000687201.1:c.142C>T | ENSP00000510037.1:p.Arg48Cys | |
| ENST00000689143.1:c.2181C>T | ENSP00000509839.1:n.2181C>T | |
| ENST00000692637.1:c.8575C>T | ENSP00000509666.1:p.Arg2859Cys | |
| ENST00000692841.1:c.142C>T | ENSP00000508711.1:p.Arg48Cys | |
| ENST00000301067.12:c.8578C>T MANE Select | ENSP00000301067.7:p.Arg2860Cys | |
| ENST00000301067.11:c.8578C>T | ENSP00000301067.7:p.Arg2860Cys | |
| ENST00000549799.1:n.220C>T | ||
| NM_003482.3:c.8578C>T | NP_003473.3:p.Arg2860Cys | |
| XM_005269162.3:c.8578C>T | XP_005269219.1:p.Arg2860Cys | |
| XM_006719614.2:c.8587C>T | XP_006719677.1:p.Arg2863Cys | |
| XM_006719616.2:c.8575C>T | XP_006719679.1:p.Arg2859Cys | |
| XM_011538770.1:c.8587C>T | XP_011537072.1:p.Arg2863Cys | |
| XM_011538771.1:c.8584C>T | XP_011537073.1:p.Arg2862Cys | |
| XM_011538772.1:c.8578C>T | XP_011537074.1:p.Arg2860Cys | |
| XM_011538773.1:c.8575C>T | XP_011537075.1:p.Arg2859Cys | |
| XM_011538774.1:c.8566C>T | XP_011537076.1:p.Arg2856Cys | |
| XM_011538775.1:c.8587C>T | XP_011537077.1:p.Arg2863Cys | |
| XM_011538776.1:c.8494C>T | XP_011537078.1:p.Arg2832Cys | |
| XR_944740.1:n.10907C>T | ||
| XM_005269162.4:c.8578C>T | XP_005269219.1:p.Arg2860Cys | |
| XM_006719614.4:c.8587C>T | XP_006719677.1:p.Arg2863Cys | |
| XM_006719616.3:c.8575C>T | XP_006719679.1:p.Arg2859Cys | |
| XM_011538770.2:c.8587C>T | XP_011537072.1:p.Arg2863Cys | |
| XM_011538771.2:c.8584C>T | XP_011537073.1:p.Arg2862Cys | |
| XM_011538772.2:c.8578C>T | XP_011537074.1:p.Arg2860Cys | |
| XM_011538773.2:c.8575C>T | XP_011537075.1:p.Arg2859Cys | |
| XM_011538774.2:c.8566C>T | XP_011537076.1:p.Arg2856Cys | |
| XM_011538776.2:c.8494C>T | XP_011537078.1:p.Arg2832Cys | |
| XR_001748874.1:n.9896C>T | ||
| NM_003482.4:c.8578C>T MANE Select | NP_003473.3:p.Arg2860Cys |