Linked Data
ClinVar Variation Id:
94244
dbSNP Id:
rs398123756
ExAC:
12:49434518 C / T
gnomAD v2:
12-49434518-C-T
gnomAD v3:
12-49040735-C-T
gnomAD v4:
12-49040735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49040735C>T , CM000674.2:g.49040735C>T | GRCh38 |
| NC_000012.11:g.49434518C>T , CM000674.1:g.49434518C>T | GRCh37 |
| NC_000012.10:g.47720785C>T | NCBI36 |
| NG_027827.1:g.19590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.7035G>A | ENSP00000506726.1:p.Leu2345= | |
| ENST00000685166.1:c.7044G>A | ENSP00000509386.1:p.Leu2348= | |
| ENST00000689060.1:c.1054G>A | ||
| ENST00000689143.1:c.708G>A | ENSP00000509839.1:p.Leu236= | |
| ENST00000689944.1:c.1144G>A | ||
| ENST00000692637.1:c.7032G>A | ENSP00000509666.1:p.Leu2344= | |
| ENST00000301067.12:c.7035G>A MANE Select | ENSP00000301067.7:p.Leu2345= | |
| ENST00000301067.11:c.7035G>A | ENSP00000301067.7:p.Leu2345= | |
| NM_003482.3:c.7035G>A | NP_003473.3:p.Leu2345= | |
| XM_005269162.3:c.7035G>A | XP_005269219.1:p.Leu2345= | |
| XM_006719614.2:c.7044G>A | XP_006719677.1:p.Leu2348= | |
| XM_006719616.2:c.7032G>A | XP_006719679.1:p.Leu2344= | |
| XM_011538770.1:c.7044G>A | XP_011537072.1:p.Leu2348= | |
| XM_011538771.1:c.7041G>A | XP_011537073.1:p.Leu2347= | |
| XM_011538772.1:c.7035G>A | XP_011537074.1:p.Leu2345= | |
| XM_011538773.1:c.7032G>A | XP_011537075.1:p.Leu2344= | |
| XM_011538774.1:c.7023G>A | XP_011537076.1:p.Leu2341= | |
| XM_011538775.1:c.7044G>A | XP_011537077.1:p.Leu2348= | |
| XM_011538776.1:c.6951G>A | XP_011537078.1:p.Leu2317= | |
| XR_944740.1:n.9364G>A | ||
| XM_005269162.4:c.7035G>A | XP_005269219.1:p.Leu2345= | |
| XM_006719614.4:c.7044G>A | XP_006719677.1:p.Leu2348= | |
| XM_006719616.3:c.7032G>A | XP_006719679.1:p.Leu2344= | |
| XM_011538770.2:c.7044G>A | XP_011537072.1:p.Leu2348= | |
| XM_011538771.2:c.7041G>A | XP_011537073.1:p.Leu2347= | |
| XM_011538772.2:c.7035G>A | XP_011537074.1:p.Leu2345= | |
| XM_011538773.2:c.7032G>A | XP_011537075.1:p.Leu2344= | |
| XM_011538774.2:c.7023G>A | XP_011537076.1:p.Leu2341= | |
| XM_011538776.2:c.6951G>A | XP_011537078.1:p.Leu2317= | |
| XR_001748874.1:n.8353G>A | ||
| NM_003482.4:c.7035G>A MANE Select | NP_003473.3:p.Leu2345= |