Linked Data
ClinVar Variation Id:
379810
ClinVar RCV Id:
RCV000442417
dbSNP Id:
rs1057520740
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49046756C>G , CM000674.2:g.49046756C>G | GRCh38 |
| NC_000012.11:g.49440539C>G , CM000674.1:g.49440539C>G | GRCh37 |
| NC_000012.10:g.47726806C>G | NCBI36 |
| NG_027827.1:g.13569G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683543.2:c.4271G>C | ENSP00000506726.1:p.Cys1424Ser | |
| ENST00000685166.1:c.4271G>C | ENSP00000509386.1:p.Cys1424Ser | |
| ENST00000688095.1:c.251G>C | ENSP00000510007.1:p.Cys84Ser | |
| ENST00000692637.1:c.4268G>C | ENSP00000509666.1:p.Cys1423Ser | |
| ENST00000301067.12:c.4271G>C MANE Select | ENSP00000301067.7:p.Cys1424Ser | |
| ENST00000301067.11:c.4271G>C | ENSP00000301067.7:p.Cys1424Ser | |
| NM_003482.3:c.4271G>C | NP_003473.3:p.Cys1424Ser | |
| XM_005269162.3:c.4271G>C | XP_005269219.1:p.Cys1424Ser | |
| XM_006719614.2:c.4271G>C | XP_006719677.1:p.Cys1424Ser | |
| XM_006719616.2:c.4268G>C | XP_006719679.1:p.Cys1423Ser | |
| XM_011538770.1:c.4271G>C | XP_011537072.1:p.Cys1424Ser | |
| XM_011538771.1:c.4268G>C | XP_011537073.1:p.Cys1423Ser | |
| XM_011538772.1:c.4271G>C | XP_011537074.1:p.Cys1424Ser | |
| XM_011538773.1:c.4268G>C | XP_011537075.1:p.Cys1423Ser | |
| XM_011538774.1:c.4271G>C | XP_011537076.1:p.Cys1424Ser | |
| XM_011538775.1:c.4271G>C | XP_011537077.1:p.Cys1424Ser | |
| XM_011538776.1:c.4271G>C | XP_011537078.1:p.Cys1424Ser | |
| XR_944740.1:n.6591G>C | ||
| XM_005269162.4:c.4271G>C | XP_005269219.1:p.Cys1424Ser | |
| XM_006719614.4:c.4271G>C | XP_006719677.1:p.Cys1424Ser | |
| XM_006719616.3:c.4268G>C | XP_006719679.1:p.Cys1423Ser | |
| XM_011538770.2:c.4271G>C | XP_011537072.1:p.Cys1424Ser | |
| XM_011538771.2:c.4268G>C | XP_011537073.1:p.Cys1423Ser | |
| XM_011538772.2:c.4271G>C | XP_011537074.1:p.Cys1424Ser | |
| XM_011538773.2:c.4268G>C | XP_011537075.1:p.Cys1423Ser | |
| XM_011538774.2:c.4271G>C | XP_011537076.1:p.Cys1424Ser | |
| XM_011538776.2:c.4271G>C | XP_011537078.1:p.Cys1424Ser | |
| XR_001748874.1:n.5580G>C | ||
| NM_003482.4:c.4271G>C MANE Select | NP_003473.3:p.Cys1424Ser |