Linked Data
ClinVar Variation Id:
94242
dbSNP Id:
rs189199944
ExAC:
12:49434801 G / A
gnomAD v2:
12-49434801-G-A
gnomAD v3:
12-49041018-G-A
gnomAD v4:
12-49041018-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49041018G>A , CM000674.2:g.49041018G>A | GRCh38 |
| NC_000012.11:g.49434801G>A , CM000674.1:g.49434801G>A | GRCh37 |
| NC_000012.10:g.47721068G>A | NCBI36 |
| NG_027827.1:g.19307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.6752C>T | ENSP00000506726.1:p.Ser2251Leu | |
| ENST00000685166.1:c.6761C>T | ENSP00000509386.1:p.Ser2254Leu | |
| ENST00000689060.1:c.771C>T | ||
| ENST00000689143.1:c.425C>T | ENSP00000509839.1:p.Ser142Leu | |
| ENST00000689944.1:c.861C>T | ||
| ENST00000692637.1:c.6749C>T | ENSP00000509666.1:p.Ser2250Leu | |
| ENST00000301067.12:c.6752C>T MANE Select | ENSP00000301067.7:p.Ser2251Leu | |
| ENST00000301067.11:c.6752C>T | ENSP00000301067.7:p.Ser2251Leu | |
| NM_003482.3:c.6752C>T | NP_003473.3:p.Ser2251Leu | |
| XM_005269162.3:c.6752C>T | XP_005269219.1:p.Ser2251Leu | |
| XM_006719614.2:c.6761C>T | XP_006719677.1:p.Ser2254Leu | |
| XM_006719616.2:c.6749C>T | XP_006719679.1:p.Ser2250Leu | |
| XM_011538770.1:c.6761C>T | XP_011537072.1:p.Ser2254Leu | |
| XM_011538771.1:c.6758C>T | XP_011537073.1:p.Ser2253Leu | |
| XM_011538772.1:c.6752C>T | XP_011537074.1:p.Ser2251Leu | |
| XM_011538773.1:c.6749C>T | XP_011537075.1:p.Ser2250Leu | |
| XM_011538774.1:c.6740C>T | XP_011537076.1:p.Ser2247Leu | |
| XM_011538775.1:c.6761C>T | XP_011537077.1:p.Ser2254Leu | |
| XM_011538776.1:c.6668C>T | XP_011537078.1:p.Ser2223Leu | |
| XR_944740.1:n.9081C>T | ||
| XM_005269162.4:c.6752C>T | XP_005269219.1:p.Ser2251Leu | |
| XM_006719614.4:c.6761C>T | XP_006719677.1:p.Ser2254Leu | |
| XM_006719616.3:c.6749C>T | XP_006719679.1:p.Ser2250Leu | |
| XM_011538770.2:c.6761C>T | XP_011537072.1:p.Ser2254Leu | |
| XM_011538771.2:c.6758C>T | XP_011537073.1:p.Ser2253Leu | |
| XM_011538772.2:c.6752C>T | XP_011537074.1:p.Ser2251Leu | |
| XM_011538773.2:c.6749C>T | XP_011537075.1:p.Ser2250Leu | |
| XM_011538774.2:c.6740C>T | XP_011537076.1:p.Ser2247Leu | |
| XM_011538776.2:c.6668C>T | XP_011537078.1:p.Ser2223Leu | |
| XR_001748874.1:n.8070C>T | ||
| NM_003482.4:c.6752C>T MANE Select | NP_003473.3:p.Ser2251Leu |