Linked Data
ClinVar Variation Id:
937404
ClinVar RCV Id:
RCV001206403
dbSNP Id:
rs74315370
MyVariant Identifiers:
chr1:g.17371320G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044825G>T , CM000663.2:g.17044825G>T | GRCh38 |
| NC_000001.10:g.17371320G>T , CM000663.1:g.17371320G>T | GRCh37 |
| NC_000001.9:g.17243907G>T | NCBI36 |
| NG_012340.1:g.14346C>A , LRG_316:g.14346C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-36C>A | ENSP00000481376.2:n.-36C>A | |
| ENST00000491274.6:c.94C>A | ENSP00000480482.2:p.Arg32= | |
| ENST00000375499.8:c.136C>A MANE Select | ENSP00000364649.3:p.Arg46= | |
| ENST00000375499.7:c.136C>A | ENSP00000364649.3:p.Arg46= | |
| ENST00000463045.2:c.-36C>A | ENSP00000481376.1:n.-36C>A | |
| ENST00000466613.2:n.148C>A | ||
| ENST00000475506.1:n.53C>A | ||
| ENST00000485515.5:n.124C>A | ||
| ENST00000491274.5:c.94C>A | ENSP00000480482.1:p.Arg32= | |
| NM_003000.2:c.136C>A , LRG_316t1:c.136C>A | NP_002991.2:p.Arg46= | |
| NM_003000.3:c.136C>A MANE Select | NP_002991.2:p.Arg46= |