Linked Data
ClinVar Variation Id:
457253
dbSNP Id:
rs759696323
ExAC:
15:48722894 C / T
gnomAD v2:
15-48722894-C-T
gnomAD v3:
15-48430697-C-T
gnomAD v4:
15-48430697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430697C>T , CM000677.2:g.48430697C>T | GRCh38 |
| NC_000015.9:g.48722894C>T , CM000677.1:g.48722894C>T | GRCh37 |
| NC_000015.8:g.46510186C>T | NCBI36 |
| NG_008805.2:g.220092G>A , LRG_778:g.220092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6845G>A | ENSP00000453958.2:p.Arg2282Gln | |
| ENST00000674301.2:c.*296G>A | ENSP00000501333.2:n.*296G>A | |
| ENST00000682170.1:n.454G>A | ||
| ENST00000316623.10:c.6845G>A MANE Select | ENSP00000325527.5:p.Arg2282Gln | |
| ENST00000674301.1:c.1949G>A | ENSP00000501333.1:n.1949G>A | |
| ENST00000316623.9:c.6845G>A | ENSP00000325527.5:p.Arg2282Gln | |
| ENST00000559133.5:c.2152G>A | ||
| ENST00000560720.1:n.132G>A | ||
| NM_000138.4:c.6845G>A , LRG_778t1:c.6845G>A | NP_000129.3:p.Arg2282Gln | |
| NM_000138.5:c.6845G>A MANE Select | NP_000129.3:p.Arg2282Gln |