Linked Data
ClinVar Variation Id:
2726171
ClinVar RCV Id:
RCV003554797
MyVariant Identifiers:
chr17:g.45363773G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286407G>A , CM000679.2:g.47286407G>A | GRCh38 |
| NC_000017.10:g.45363773G>A , CM000679.1:g.45363773G>A | GRCh37 |
| NC_000017.9:g.42718772G>A | NCBI36 |
| NG_008332.2:g.37566G>A , LRG_481:g.37566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.762G>A | ENSP00000513002.1:p.Gln254= | |
| ENST00000559488.7:c.762G>A MANE Select | ENSP00000452786.2:p.Gln254= | |
| ENST00000559488.5:c.762G>A | ENSP00000452786.1:p.Gln254= | |
| ENST00000560629.1:c.727G>A | ||
| ENST00000571680.1:c.762G>A | ENSP00000461626.1:p.Gln254= | |
| NM_000212.2:c.762G>A , LRG_481t1:c.762G>A | NP_000203.2:p.Gln254= | |
| NM_000212.3:c.762G>A MANE Select | NP_000203.2:p.Gln254= |