Linked Data
ClinVar Variation Id:
527153
dbSNP Id:
rs748934203
ExAC:
15:48707745 C / T
gnomAD v2:
15-48707745-C-T
gnomAD v3:
15-48415548-C-T
gnomAD v4:
15-48415548-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415548C>T , CM000677.2:g.48415548C>T | GRCh38 |
| NC_000015.9:g.48707745C>T , CM000677.1:g.48707745C>T | GRCh37 |
| NC_000015.8:g.46495037C>T | NCBI36 |
| NG_008805.2:g.235241G>A , LRG_778:g.235241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*847G>A | ENSP00000453958.2:n.*847G>A | |
| ENST00000674301.2:c.*1552G>A | ENSP00000501333.2:n.*1552G>A | |
| ENST00000682158.1:n.1420G>A | ||
| ENST00000682170.1:n.2220G>A | ||
| ENST00000682767.1:n.1336G>A | ||
| ENST00000316623.10:c.8039G>A MANE Select | ENSP00000325527.5:p.Arg2680His | |
| ENST00000674301.1:c.3205G>A | ENSP00000501333.1:n.3205G>A | |
| ENST00000316623.9:c.8039G>A | ENSP00000325527.5:p.Arg2680His | |
| ENST00000559133.5:c.3408G>A | ||
| ENST00000561429.1:n.294G>A | ||
| NM_000138.4:c.8039G>A , LRG_778t1:c.8039G>A | NP_000129.3:p.Arg2680His | |
| NM_000138.5:c.8039G>A MANE Select | NP_000129.3:p.Arg2680His |