Linked Data
ClinVar Variation Id:
1698173
ClinVar RCV Id:
RCV002269596
dbSNP Id:
rs2087242457
MyVariant Identifiers:
chr17:g.35820207A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35820207A>G , CM000679.2:g.35820207A>G | GRCh38 |
| NC_000017.9:g.31171324A>G | NCBI36 |
| NG_023279.1:g.15724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000603393.6:c.143A>G | ENSP00000474653.2:p.Gln48Arg | |
| ENST00000603427.6:c.235A>G | ENSP00000474436.2:p.Arg79Gly | |
| ENST00000603777.6:c.313A>G | ENSP00000474522.2:p.Arg105Gly | |
| ENST00000604360.6:c.143A>G | ENSP00000510013.1:p.Gln48Arg | |
| ENST00000604694.2:c.143A>G | ENSP00000475147.2:p.Gln48Arg | |
| ENST00000604879.6:c.100-125A>G | ENSP00000475044.2:n.100-125A>G | |
| ENST00000605197.3:n.207A>G | ||
| ENST00000605649.6:n.229A>G | ||
| ENST00000685897.1:n.269A>G | ||
| ENST00000689923.1:n.317A>G | ||
| ENST00000605844.6:c.143A>G MANE Select | ENSP00000474096.1:p.Gln48Arg | |
| ENST00000603067.5:n.7-14058A>G | ||
| ENST00000603393.5:c.-131A>G | ENSP00000474653.1:n.-131A>G | |
| ENST00000603427.5:c.-131A>G | ENSP00000474436.1:n.-131A>G | |
| ENST00000603777.5:c.-131A>G | ENSP00000474522.1:n.-131A>G | |
| ENST00000604360.5:n.186-125A>G | ||
| ENST00000604841.5:c.143A>G | ENSP00000474609.1:p.Gln48Arg | |
| ENST00000604879.5:c.143A>G | ENSP00000475044.1:p.Gln48Arg | |
| ENST00000605197.2:n.207A>G | ||
| ENST00000605649.5:n.317A>G | ||
| ENST00000605844.5:c.143A>G | ENSP00000474096.1:p.Gln48Arg | |
| NM_003487.3:c.143A>G | NP_003478.1:p.Gln48Arg | |
| NM_139215.2:c.143A>G | NP_631961.1:p.Gln48Arg | |
| XM_011525314.1:c.143A>G | XP_011523616.1:p.Gln48Arg | |
| XM_011525315.1:c.-131A>G | XP_011523617.1:n.-131A>G | |
| XM_024450959.1:c.-630A>G | XP_024306727.1:n.-630A>G | |
| NM_139215.3:c.143A>G MANE Select | NP_631961.1:p.Gln48Arg | |
| NM_003487.4:c.143A>G | NP_003478.1:p.Gln48Arg |