Linked Data
ClinVar Variation Id:
134680
dbSNP Id:
rs368134008
gnomAD v2:
12-49437175-C-A
gnomAD v3:
12-49043392-C-A
gnomAD v4:
12-49043392-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49043392C>A , CM000674.2:g.49043392C>A | GRCh38 |
| NC_000012.11:g.49437175C>A , CM000674.1:g.49437175C>A | GRCh37 |
| NC_000012.10:g.47723442C>A | NCBI36 |
| NG_027827.1:g.16933G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650290.2:c.316G>T | ||
| ENST00000683543.2:c.5504G>T | ENSP00000506726.1:p.Arg1835Leu | |
| ENST00000685166.1:c.5513G>T | ENSP00000509386.1:p.Arg1838Leu | |
| ENST00000688095.1:c.1453G>T | ENSP00000510007.1:n.1453G>T | |
| ENST00000692637.1:c.5501G>T | ENSP00000509666.1:p.Arg1834Leu | |
| ENST00000301067.12:c.5504G>T MANE Select | ENSP00000301067.7:p.Arg1835Leu | |
| ENST00000301067.11:c.5504G>T | ENSP00000301067.7:p.Arg1835Leu | |
| ENST00000550356.1:n.307G>T | ||
| NM_003482.3:c.5504G>T | NP_003473.3:p.Arg1835Leu | |
| XM_005269162.3:c.5504G>T | XP_005269219.1:p.Arg1835Leu | |
| XM_006719614.2:c.5513G>T | XP_006719677.1:p.Arg1838Leu | |
| XM_006719616.2:c.5501G>T | XP_006719679.1:p.Arg1834Leu | |
| XM_011538770.1:c.5513G>T | XP_011537072.1:p.Arg1838Leu | |
| XM_011538771.1:c.5510G>T | XP_011537073.1:p.Arg1837Leu | |
| XM_011538772.1:c.5504G>T | XP_011537074.1:p.Arg1835Leu | |
| XM_011538773.1:c.5501G>T | XP_011537075.1:p.Arg1834Leu | |
| XM_011538774.1:c.5513G>T | XP_011537076.1:p.Arg1838Leu | |
| XM_011538775.1:c.5513G>T | XP_011537077.1:p.Arg1838Leu | |
| XM_011538776.1:c.5513G>T | XP_011537078.1:p.Arg1838Leu | |
| XR_944740.1:n.7833G>T | ||
| XM_005269162.4:c.5504G>T | XP_005269219.1:p.Arg1835Leu | |
| XM_006719614.4:c.5513G>T | XP_006719677.1:p.Arg1838Leu | |
| XM_006719616.3:c.5501G>T | XP_006719679.1:p.Arg1834Leu | |
| XM_011538770.2:c.5513G>T | XP_011537072.1:p.Arg1838Leu | |
| XM_011538771.2:c.5510G>T | XP_011537073.1:p.Arg1837Leu | |
| XM_011538772.2:c.5504G>T | XP_011537074.1:p.Arg1835Leu | |
| XM_011538773.2:c.5501G>T | XP_011537075.1:p.Arg1834Leu | |
| XM_011538774.2:c.5513G>T | XP_011537076.1:p.Arg1838Leu | |
| XM_011538776.2:c.5513G>T | XP_011537078.1:p.Arg1838Leu | |
| XR_001748874.1:n.6822G>T | ||
| NM_003482.4:c.5504G>T MANE Select | NP_003473.3:p.Arg1835Leu |