Linked Data
ClinVar Variation Id:
1594247
ClinVar RCV Id:
RCV002115298
dbSNP Id:
rs2144376829
MyVariant Identifiers:
chr17:g.68171513G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175372G>A , CM000679.2:g.70175372G>A | GRCh38 |
| NC_000017.10:g.68171513G>A , CM000679.1:g.68171513G>A | GRCh37 |
| NC_000017.9:g.65683108G>A | NCBI36 |
| NG_008798.1:g.10838G>A , LRG_328:g.10838G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.333G>A MANE Select | ENSP00000243457.2:p.Gly111= | |
| ENST00000243457.3:c.333G>A | ENSP00000243457.2:p.Gly111= | |
| ENST00000535240.1:c.333G>A | ENSP00000441848.1:p.Gly111= | |
| NM_000891.2:c.333G>A , LRG_328t1:c.333G>A | NP_000882.1:p.Gly111= | |
| XM_011524779.1:c.333G>A | XP_011523081.1:p.Gly111= | |
| NM_000891.3:c.333G>A MANE Select | NP_000882.1:p.Gly111= |