Linked Data
ClinVar Variation Id:
94180
dbSNP Id:
rs398123724
gnomAD v2:
12-49420607-G-A
gnomAD v4:
12-49026824-G-A
PubMed:
PMID:25972376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49026824G>A , CM000674.2:g.49026824G>A | GRCh38 |
| NC_000012.11:g.49420607G>A , CM000674.1:g.49420607G>A | GRCh37 |
| NC_000012.10:g.47706874G>A | NCBI36 |
| NG_027827.1:g.33501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.15142C>T | ENSP00000506726.1:p.Arg5048Cys | |
| ENST00000685024.1:c.267C>T | ||
| ENST00000685166.1:c.15151C>T | ENSP00000509386.1:p.Arg5051Cys | |
| ENST00000688411.1:c.261+979C>T | ENSP00000510146.1:n.261+979C>T | |
| ENST00000691463.1:c.528C>T | ENSP00000510624.1:n.528C>T | |
| ENST00000692637.1:c.15139C>T | ENSP00000509666.1:p.Arg5047Cys | |
| ENST00000301067.12:c.15142C>T MANE Select | ENSP00000301067.7:p.Arg5048Cys | |
| ENST00000301067.11:c.15142C>T | ENSP00000301067.7:p.Arg5048Cys | |
| NM_003482.3:c.15142C>T | NP_003473.3:p.Arg5048Cys | |
| XM_005269162.3:c.15142C>T | XP_005269219.1:p.Arg5048Cys | |
| XM_006719614.2:c.15151C>T | XP_006719677.1:p.Arg5051Cys | |
| XM_006719616.2:c.15139C>T | XP_006719679.1:p.Arg5047Cys | |
| XM_011538770.1:c.15151C>T | XP_011537072.1:p.Arg5051Cys | |
| XM_011538771.1:c.15148C>T | XP_011537073.1:p.Arg5050Cys | |
| XM_011538772.1:c.15142C>T | XP_011537074.1:p.Arg5048Cys | |
| XM_011538773.1:c.15139C>T | XP_011537075.1:p.Arg5047Cys | |
| XM_011538774.1:c.15130C>T | XP_011537076.1:p.Arg5044Cys | |
| XM_011538775.1:c.15085C>T | XP_011537077.1:p.Arg5029Cys | |
| XM_011538776.1:c.15058C>T | XP_011537078.1:p.Arg5020Cys | |
| XR_944740.1:n.16972+979C>T | ||
| XM_005269162.4:c.15142C>T | XP_005269219.1:p.Arg5048Cys | |
| XM_006719614.4:c.15151C>T | XP_006719677.1:p.Arg5051Cys | |
| XM_006719616.3:c.15139C>T | XP_006719679.1:p.Arg5047Cys | |
| XM_011538770.2:c.15151C>T | XP_011537072.1:p.Arg5051Cys | |
| XM_011538771.2:c.15148C>T | XP_011537073.1:p.Arg5050Cys | |
| XM_011538772.2:c.15142C>T | XP_011537074.1:p.Arg5048Cys | |
| XM_011538773.2:c.15139C>T | XP_011537075.1:p.Arg5047Cys | |
| XM_011538774.2:c.15130C>T | XP_011537076.1:p.Arg5044Cys | |
| XM_011538776.2:c.15058C>T | XP_011537078.1:p.Arg5020Cys | |
| XR_001748874.1:n.15961+979C>T | ||
| NM_003482.4:c.15142C>T MANE Select | NP_003473.3:p.Arg5048Cys |