Linked Data
ClinVar Variation Id:
200097
dbSNP Id:
rs770443276
ExAC:
15:48720623 C / T
gnomAD v2:
15-48720623-C-T
gnomAD v3:
15-48428426-C-T
gnomAD v4:
15-48428426-C-T
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428426C>T , CM000677.2:g.48428426C>T | GRCh38 |
| NC_000015.9:g.48720623C>T , CM000677.1:g.48720623C>T | GRCh37 |
| NC_000015.8:g.46507915C>T | NCBI36 |
| NG_008805.2:g.222363G>A , LRG_778:g.222363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6917G>A | ENSP00000453958.2:p.Arg2306His | |
| ENST00000674301.2:c.*368G>A | ENSP00000501333.2:n.*368G>A | |
| ENST00000682170.1:n.526G>A | ||
| ENST00000682767.1:n.152G>A | ||
| ENST00000316623.10:c.6917G>A MANE Select | ENSP00000325527.5:p.Arg2306His | |
| ENST00000674301.1:c.2021G>A | ENSP00000501333.1:n.2021G>A | |
| ENST00000316623.9:c.6917G>A | ENSP00000325527.5:p.Arg2306His | |
| ENST00000559133.5:c.2224G>A | ||
| ENST00000560720.1:n.204G>A | ||
| NM_000138.4:c.6917G>A , LRG_778t1:c.6917G>A | NP_000129.3:p.Arg2306His | |
| NM_000138.5:c.6917G>A MANE Select | NP_000129.3:p.Arg2306His |