Linked Data
ClinVar Variation Id:
797357
ClinVar RCV Id:
RCV000980814
dbSNP Id:
rs1321071938
gnomAD v2:
12-123246725-C-T
gnomAD v3:
12-122762178-C-T
gnomAD v4:
12-122762178-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122762178C>T , CM000674.2:g.122762178C>T | GRCh38 |
| NC_000012.11:g.123246725C>T , CM000674.1:g.123246725C>T | GRCh37 |
| NC_000012.10:g.121812678C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280557.11:c.107-9C>T MANE Select | ENSP00000280557.6:n.107-9C>T | |
| ENST00000280557.10:c.107-9C>T | ENSP00000280557.6:n.107-9C>T | |
| ENST00000455982.2:c.107-9C>T | ENSP00000413661.2:n.107-9C>T | |
| ENST00000539463.1:n.240-9C>T | ||
| NM_003677.4:c.107-9C>T | NP_003668.2:n.107-9C>T | |
| NM_003677.5:c.107-9C>T MANE Select | NP_003668.2:n.107-9C>T |