Linked Data
ClinVar Variation Id:
156022
ClinVar RCV Id:
RCV000144079
dbSNP Id:
rs113369052
PubMed:
PMID:22668561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52487957T>G , CM000674.2:g.52487957T>G | GRCh38 |
| NC_000012.11:g.52881741T>G , CM000674.1:g.52881741T>G | GRCh37 |
| NC_000012.10:g.51168008T>G | NCBI36 |
| NG_008298.1:g.10441A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1460-2A>C MANE Select | ENSP00000369317.3:n.1460-2A>C | |
| ENST00000330722.6:c.1460-2A>C | ENSP00000369317.3:n.1460-2A>C | |
| NM_005554.3:c.1460-2A>C | NP_005545.1:n.1460-2A>C | |
| NM_005554.4:c.1460-2A>C MANE Select | NP_005545.1:n.1460-2A>C |