Linked Data
ClinVar Variation Id:
310793
ClinVar RCV Id:
RCV000348131
dbSNP Id:
rs532766014
gnomAD v2:
12-98987449-C-T
gnomAD v3:
12-98593671-C-T
gnomAD v4:
12-98593671-C-T
COSMIC:
COSN1154391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98593671C>T , CM000674.2:g.98593671C>T | GRCh38 |
| NC_000012.11:g.98987449C>T , CM000674.1:g.98987449C>T | GRCh37 |
| NC_000012.10:g.97511580C>T | NCBI36 |
| NG_011702.1:g.5047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000188376.9:c.-308C>T | ENSP00000188376.5:n.-308C>T | |
| ENST00000228318.7:c.-74C>T | ENSP00000228318.3:n.-74C>T | |
| ENST00000401722.7:c.-70C>T | ENSP00000383898.3:n.-70C>T | |
| ENST00000546766.5:n.17C>T | ||
| ENST00000548046.5:c.-74C>T | ENSP00000447339.1:n.-74C>T | |
| ENST00000551917.5:c.-70C>T | ENSP00000447310.1:n.-70C>T | |
| ENST00000552981.5:c.-74C>T | ENSP00000448708.1:n.-74C>T | |
| NM_002635.3:c.-74C>T | NP_002626.1:n.-74C>T | |
| NM_005888.3:c.-74C>T | NP_005879.1:n.-74C>T | |
| NM_213611.2:c.-308C>T | NP_998776.1:n.-308C>T |