Linked Data
ClinVar Variation Id:
42294
ClinVar RCV Id:
RCV000035128
RCV000459707
RCV000493016
RCV000663503
RCV002277117
RCV002307372
RCV002313726
dbSNP Id:
rs397515764
PubMed:
PMID:19293843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48505139C>T , CM000677.2:g.48505139C>T | GRCh38 |
| NC_000015.9:g.48797336C>T , CM000677.1:g.48797336C>T | GRCh37 |
| NC_000015.8:g.46584628C>T | NCBI36 |
| NG_008805.2:g.145650G>A , LRG_778:g.145650G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1846G>A | ENSP00000453958.2:p.Glu616Lys | |
| ENST00000674301.2:c.1846G>A | ENSP00000501333.2:p.Glu616Lys | |
| ENST00000684448.1:n.520G>A | ||
| ENST00000316623.10:c.1846G>A MANE Select | ENSP00000325527.5:p.Glu616Lys | |
| ENST00000316623.9:c.1846G>A | ENSP00000325527.5:p.Glu616Lys | |
| ENST00000537463.6:c.637-30489G>A | ENSP00000440294.2:n.637-30489G>A | |
| NM_000138.4:c.1846G>A , LRG_778t1:c.1846G>A | NP_000129.3:p.Glu616Lys | |
| NM_000138.5:c.1846G>A MANE Select | NP_000129.3:p.Glu616Lys |