Linked Data
ClinVar Variation Id:
287689
dbSNP Id:
rs373146997
ExAC:
12:49424164 G / A
gnomAD v2:
12-49424164-G-A
gnomAD v3:
12-49030381-G-A
gnomAD v4:
12-49030381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49030381G>A , CM000674.2:g.49030381G>A | GRCh38 |
| NC_000012.11:g.49424164G>A , CM000674.1:g.49424164G>A | GRCh37 |
| NC_000012.10:g.47710431G>A | NCBI36 |
| NG_027827.1:g.29944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.759C>T | ||
| ENST00000683543.2:c.13898C>T | ENSP00000506726.1:p.Ser4633Leu | |
| ENST00000685166.1:c.13907C>T | ENSP00000509386.1:p.Ser4636Leu | |
| ENST00000685979.1:c.169-8C>T | ENSP00000508906.1:n.169-8C>T | |
| ENST00000686564.1:c.169-11C>T | ENSP00000509290.1:n.169-11C>T | |
| ENST00000691986.1:c.197C>T | ENSP00000509196.1:p.Ser66Leu | |
| ENST00000692637.1:c.13895C>T | ENSP00000509666.1:p.Ser4632Leu | |
| ENST00000301067.12:c.13898C>T MANE Select | ENSP00000301067.7:p.Ser4633Leu | |
| ENST00000301067.11:c.13898C>T | ENSP00000301067.7:p.Ser4633Leu | |
| ENST00000552391.1:n.759C>T | ||
| NM_003482.3:c.13898C>T | NP_003473.3:p.Ser4633Leu | |
| XM_005269162.3:c.13898C>T | XP_005269219.1:p.Ser4633Leu | |
| XM_006719614.2:c.13907C>T | XP_006719677.1:p.Ser4636Leu | |
| XM_006719616.2:c.13895C>T | XP_006719679.1:p.Ser4632Leu | |
| XM_011538770.1:c.13907C>T | XP_011537072.1:p.Ser4636Leu | |
| XM_011538771.1:c.13904C>T | XP_011537073.1:p.Ser4635Leu | |
| XM_011538772.1:c.13898C>T | XP_011537074.1:p.Ser4633Leu | |
| XM_011538773.1:c.13895C>T | XP_011537075.1:p.Ser4632Leu | |
| XM_011538774.1:c.13886C>T | XP_011537076.1:p.Ser4629Leu | |
| XM_011538775.1:c.13849-8C>T | XP_011537077.1:n.13849-8C>T | |
| XM_011538776.1:c.13814C>T | XP_011537078.1:p.Ser4605Leu | |
| XR_944740.1:n.16227C>T | ||
| XM_005269162.4:c.13898C>T | XP_005269219.1:p.Ser4633Leu | |
| XM_006719614.4:c.13907C>T | XP_006719677.1:p.Ser4636Leu | |
| XM_006719616.3:c.13895C>T | XP_006719679.1:p.Ser4632Leu | |
| XM_011538770.2:c.13907C>T | XP_011537072.1:p.Ser4636Leu | |
| XM_011538771.2:c.13904C>T | XP_011537073.1:p.Ser4635Leu | |
| XM_011538772.2:c.13898C>T | XP_011537074.1:p.Ser4633Leu | |
| XM_011538773.2:c.13895C>T | XP_011537075.1:p.Ser4632Leu | |
| XM_011538774.2:c.13886C>T | XP_011537076.1:p.Ser4629Leu | |
| XM_011538776.2:c.13814C>T | XP_011537078.1:p.Ser4605Leu | |
| XR_001748874.1:n.15216C>T | ||
| NM_003482.4:c.13898C>T MANE Select | NP_003473.3:p.Ser4633Leu |