Linked Data
ClinVar Variation Id:
2172850
ClinVar RCV Id:
RCV002581615
dbSNP Id:
rs200597791
ExAC:
5:1213667 C / T
gnomAD v2:
5-1213667-C-T
gnomAD v3:
5-1213552-C-T
gnomAD v4:
5-1213552-C-T
COSMIC:
COSM4507692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213552C>T , CM000667.2:g.1213552C>T | GRCh38 |
| NC_000005.9:g.1213667C>T , CM000667.1:g.1213667C>T | GRCh37 |
| NC_000005.8:g.1266667C>T | NCBI36 |
| NG_008282.1:g.16958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.753C>T MANE Select | ENSP00000305302.10:p.Ile251= | |
| ENST00000304460.10:c.753C>T | ENSP00000305302.10:p.Ile251= | |
| ENST00000515652.5:c.661C>T | ENSP00000425701.1:p.Arg221Cys | |
| NM_001003841.2:c.753C>T | NP_001003841.1:p.Ile251= | |
| NM_001003841.3:c.753C>T MANE Select | NP_001003841.1:p.Ile251= |