Linked Data
ClinVar Variation Id:
371014
ClinVar RCV Id:
RCV000409122
dbSNP Id:
rs762341786
PubMed:
PMID:9187502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829750G>T , CM000665.2:g.165829750G>T | GRCh38 |
| NC_000003.11:g.165547538G>T , CM000665.1:g.165547538G>T | GRCh37 |
| NC_000003.10:g.167030232G>T | NCBI36 |
| NG_009031.1:g.12716C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1284C>A MANE Select | ENSP00000264381.3:p.Cys428Ter | |
| ENST00000264381.7:c.1284C>A | ENSP00000264381.3:p.Cys428Ter | |
| ENST00000479451.5:c.107+7564C>A | ENSP00000418325.1:n.107+7564C>A | |
| ENST00000482958.1:c.1284C>A | ENSP00000419804.1:p.Cys428Ter | |
| ENST00000488954.1:c.107+7564C>A | ENSP00000418504.1:n.107+7564C>A | |
| ENST00000497011.5:c.1284C>A | ENSP00000419505.1:p.Cys428Ter | |
| NM_000055.2:c.1284C>A | NP_000046.1:p.Cys428Ter | |
| XM_005247685.1:c.1407C>A | XP_005247742.1:p.Cys469Ter | |
| NM_000055.3:c.1284C>A | NP_000046.1:p.Cys428Ter | |
| NR_137635.1:n.159+7564C>A | ||
| NR_137636.1:n.1451C>A | ||
| NM_000055.4:c.1284C>A MANE Select | NP_000046.1:p.Cys428Ter | |
| NR_137635.2:n.110+7564C>A | ||
| NR_137636.2:n.1402C>A |