Linked Data
ClinVar Variation Id:
190266
ClinVar RCV Id:
RCV000201287
RCV001186227
RCV001561954
RCV001297613
RCV002228779
RCV002505229
RCV003995647
dbSNP Id:
rs775489067
ExAC:
15:48805787 C / T
gnomAD v2:
15-48805787-C-T
gnomAD v3:
15-48513590-C-T
gnomAD v4:
15-48513590-C-T
COSMIC:
COSM275136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48513590C>T , CM000677.2:g.48513590C>T | GRCh38 |
| NC_000015.9:g.48805787C>T , CM000677.1:g.48805787C>T | GRCh37 |
| NC_000015.8:g.46593079C>T | NCBI36 |
| NG_008805.2:g.137199G>A , LRG_778:g.137199G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1547G>A | ENSP00000453958.2:p.Arg516Gln | |
| ENST00000674301.2:c.1547G>A | ENSP00000501333.2:p.Arg516Gln | |
| ENST00000684448.1:n.221G>A | ||
| ENST00000316623.10:c.1547G>A MANE Select | ENSP00000325527.5:p.Arg516Gln | |
| ENST00000316623.9:c.1547G>A | ENSP00000325527.5:p.Arg516Gln | |
| ENST00000537463.6:c.636+24121G>A | ENSP00000440294.2:n.636+24121G>A | |
| NM_000138.4:c.1547G>A , LRG_778t1:c.1547G>A | NP_000129.3:p.Arg516Gln | |
| NM_000138.5:c.1547G>A MANE Select | NP_000129.3:p.Arg516Gln |