Linked Data
ClinVar Variation Id:
42370
ClinVar RCV Id:
RCV000035210
RCV000515425
RCV000632070
RCV000777948
RCV001374849
RCV001703452
RCV002277122
dbSNP Id:
rs148888513
ExAC:
15:48758053 C / T
gnomAD v2:
15-48758053-C-T
gnomAD v3:
15-48465856-C-T
gnomAD v4:
15-48465856-C-T
PubMed:
PMID:23608731
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48465856C>T , CM000677.2:g.48465856C>T | GRCh38 |
| NC_000015.9:g.48758053C>T , CM000677.1:g.48758053C>T | GRCh37 |
| NC_000015.8:g.46545345C>T | NCBI36 |
| NG_008805.2:g.184933G>A , LRG_778:g.184933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4750G>A | ENSP00000453958.2:p.Glu1584Lys | |
| ENST00000674301.2:c.4750G>A | ENSP00000501333.2:p.Glu1584Lys | |
| ENST00000684448.1:n.3424G>A | ||
| ENST00000316623.10:c.4750G>A MANE Select | ENSP00000325527.5:p.Glu1584Lys | |
| ENST00000316623.9:c.4750G>A | ENSP00000325527.5:p.Glu1584Lys | |
| ENST00000537463.6:c.*513G>A | ENSP00000440294.2:n.*513G>A | |
| ENST00000559133.5:c.57G>A | ||
| NM_000138.4:c.4750G>A , LRG_778t1:c.4750G>A | NP_000129.3:p.Glu1584Lys | |
| NM_000138.5:c.4750G>A MANE Select | NP_000129.3:p.Glu1584Lys |