Linked Data
dbSNP Id:
rs772219204
ExAC:
15:48703191 T / C
gnomAD v2:
15-48703191-T-C
gnomAD v4:
15-48410994-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410994T>C , CM000677.2:g.48410994T>C | GRCh38 |
| NC_000015.9:g.48703191T>C , CM000677.1:g.48703191T>C | GRCh37 |
| NC_000015.8:g.46490483T>C | NCBI36 |
| NG_008805.2:g.239795A>G , LRG_778:g.239795A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1420A>G | ENSP00000453958.2:n.*1420A>G | |
| ENST00000682158.1:n.1993A>G | ||
| ENST00000682170.1:n.2793A>G | ||
| ENST00000682767.1:n.1909A>G | ||
| ENST00000316623.10:c.8612A>G MANE Select | ENSP00000325527.5:p.His2871Arg | |
| ENST00000316623.9:c.8612A>G | ENSP00000325527.5:p.His2871Arg | |
| ENST00000559133.5:c.3981A>G | ||
| NM_000138.4:c.8612A>G , LRG_778t1:c.8612A>G | NP_000129.3:p.His2871Arg | |
| NM_000138.5:c.8612A>G MANE Select | NP_000129.3:p.His2871Arg |