Linked Data
ClinVar Variation Id:
1110062
dbSNP Id:
rs2141272876
MyVariant Identifiers:
chr15:g.48760622T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468425T>A , CM000677.2:g.48468425T>A | GRCh38 |
| NC_000015.9:g.48760622T>A , CM000677.1:g.48760622T>A | GRCh37 |
| NC_000015.8:g.46547914T>A | NCBI36 |
| NG_008805.2:g.182364A>T , LRG_778:g.182364A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4569A>T | ENSP00000453958.2:p.Arg1523= | |
| ENST00000674301.2:c.4569A>T | ENSP00000501333.2:p.Arg1523= | |
| ENST00000684448.1:n.3243A>T | ||
| ENST00000316623.10:c.4569A>T MANE Select | ENSP00000325527.5:p.Arg1523= | |
| ENST00000316623.9:c.4569A>T | ENSP00000325527.5:p.Arg1523= | |
| ENST00000537463.6:c.*332A>T | ENSP00000440294.2:n.*332A>T | |
| NM_000138.4:c.4569A>T , LRG_778t1:c.4569A>T | NP_000129.3:p.Arg1523= | |
| NM_000138.5:c.4569A>T MANE Select | NP_000129.3:p.Arg1523= |