Linked Data
ClinVar Variation Id:
1539968
ClinVar RCV Id:
RCV002177023
dbSNP Id:
rs2145567428
MyVariant Identifiers:
chr17:g.54671980C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594619C>A , CM000679.2:g.56594619C>A | GRCh38 |
| NC_000017.10:g.54671980C>A , CM000679.1:g.54671980C>A | GRCh37 |
| NC_000017.9:g.52026979C>A | NCBI36 |
| NG_011958.1:g.5921C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.396C>A MANE Select | ENSP00000328181.4:p.Gly132= | |
| ENST00000332822.4:c.396C>A | ENSP00000328181.4:p.Gly132= | |
| NM_005450.4:c.396C>A | NP_005441.1:p.Gly132= | |
| NM_005450.6:c.396C>A MANE Select | NP_005441.1:p.Gly132= |