Linked Data
ClinVar Variation Id:
733242
dbSNP Id:
rs200353146
MyVariant Identifiers:
chr1:g.17354337C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027842C>T , CM000663.2:g.17027842C>T | GRCh38 |
| NC_000001.10:g.17354337C>T , CM000663.1:g.17354337C>T | GRCh37 |
| NC_000001.9:g.17226924C>T | NCBI36 |
| NG_012340.1:g.31329G>A , LRG_316:g.31329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.276G>A | ENSP00000481376.2:p.Gln92= | |
| ENST00000491274.6:c.405G>A | ENSP00000480482.2:p.Gln135= | |
| ENST00000375499.8:c.447G>A MANE Select | ENSP00000364649.3:p.Gln149= | |
| ENST00000375499.7:c.447G>A | ENSP00000364649.3:p.Gln149= | |
| ENST00000463045.2:c.276G>A | ENSP00000481376.1:p.Gln92= | |
| ENST00000475506.1:n.364G>A | ||
| ENST00000485515.5:n.381G>A | ||
| ENST00000491274.5:c.405G>A | ENSP00000480482.1:p.Gln135= | |
| NM_003000.2:c.447G>A , LRG_316t1:c.447G>A | NP_002991.2:p.Gln149= | |
| NM_003000.3:c.447G>A MANE Select | NP_002991.2:p.Gln149= |