Linked Data
ClinVar Variation Id:
183372
ClinVar RCV Id:
RCV000172949
dbSNP Id:
rs793888513
gnomAD v2:
12-49421090-C-A
gnomAD v4:
12-49027307-C-A
PubMed:
PMID:25972376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49027307C>A , CM000674.2:g.49027307C>A | GRCh38 |
| NC_000012.11:g.49421090C>A , CM000674.1:g.49421090C>A | GRCh37 |
| NC_000012.10:g.47707357C>A | NCBI36 |
| NG_027827.1:g.33018G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.14659G>T | ENSP00000506726.1:p.Glu4887Ter | |
| ENST00000685166.1:c.14668G>T | ENSP00000509386.1:p.Glu4890Ter | |
| ENST00000686151.1:n.234G>T | ||
| ENST00000688411.1:c.261+496G>T | ENSP00000510146.1:n.261+496G>T | |
| ENST00000691463.1:c.262-217G>T | ENSP00000510624.1:n.262-217G>T | |
| ENST00000692637.1:c.14656G>T | ENSP00000509666.1:p.Glu4886Ter | |
| ENST00000301067.12:c.14659G>T MANE Select | ENSP00000301067.7:p.Glu4887Ter | |
| ENST00000301067.11:c.14659G>T | ENSP00000301067.7:p.Glu4887Ter | |
| NM_003482.3:c.14659G>T | NP_003473.3:p.Glu4887Ter | |
| XM_005269162.3:c.14659G>T | XP_005269219.1:p.Glu4887Ter | |
| XM_006719614.2:c.14668G>T | XP_006719677.1:p.Glu4890Ter | |
| XM_006719616.2:c.14656G>T | XP_006719679.1:p.Glu4886Ter | |
| XM_011538770.1:c.14668G>T | XP_011537072.1:p.Glu4890Ter | |
| XM_011538771.1:c.14665G>T | XP_011537073.1:p.Glu4889Ter | |
| XM_011538772.1:c.14659G>T | XP_011537074.1:p.Glu4887Ter | |
| XM_011538773.1:c.14656G>T | XP_011537075.1:p.Glu4886Ter | |
| XM_011538774.1:c.14647G>T | XP_011537076.1:p.Glu4883Ter | |
| XM_011538775.1:c.14602G>T | XP_011537077.1:p.Glu4868Ter | |
| XM_011538776.1:c.14575G>T | XP_011537078.1:p.Glu4859Ter | |
| XR_944740.1:n.16972+496G>T | ||
| XM_005269162.4:c.14659G>T | XP_005269219.1:p.Glu4887Ter | |
| XM_006719614.4:c.14668G>T | XP_006719677.1:p.Glu4890Ter | |
| XM_006719616.3:c.14656G>T | XP_006719679.1:p.Glu4886Ter | |
| XM_011538770.2:c.14668G>T | XP_011537072.1:p.Glu4890Ter | |
| XM_011538771.2:c.14665G>T | XP_011537073.1:p.Glu4889Ter | |
| XM_011538772.2:c.14659G>T | XP_011537074.1:p.Glu4887Ter | |
| XM_011538773.2:c.14656G>T | XP_011537075.1:p.Glu4886Ter | |
| XM_011538774.2:c.14647G>T | XP_011537076.1:p.Glu4883Ter | |
| XM_011538776.2:c.14575G>T | XP_011537078.1:p.Glu4859Ter | |
| XR_001748874.1:n.15961+496G>T | ||
| NM_003482.4:c.14659G>T MANE Select | NP_003473.3:p.Glu4887Ter |