Linked Data
ClinVar Variation Id:
373743
dbSNP Id:
rs764203302
gnomAD v2:
15-48744809-C-T
gnomAD v3:
15-48452612-C-T
gnomAD v4:
15-48452612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48452612C>T , CM000677.2:g.48452612C>T | GRCh38 |
| NC_000015.9:g.48744809C>T , CM000677.1:g.48744809C>T | GRCh37 |
| NC_000015.8:g.46532101C>T | NCBI36 |
| NG_008805.2:g.198177G>A , LRG_778:g.198177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5495G>A | ENSP00000453958.2:p.Arg1832His | |
| ENST00000674301.2:c.5495G>A | ENSP00000501333.2:p.Arg1832His | |
| ENST00000684448.1:n.4169G>A | ||
| ENST00000316623.10:c.5495G>A MANE Select | ENSP00000325527.5:p.Arg1832His | |
| ENST00000674301.1:c.494G>A | ENSP00000501333.1:p.Arg165His | |
| ENST00000316623.9:c.5495G>A | ENSP00000325527.5:p.Arg1832His | |
| ENST00000537463.6:c.*1258G>A | ENSP00000440294.2:n.*1258G>A | |
| ENST00000559133.5:c.802G>A | ||
| NM_000138.4:c.5495G>A , LRG_778t1:c.5495G>A | NP_000129.3:p.Arg1832His | |
| NM_000138.5:c.5495G>A MANE Select | NP_000129.3:p.Arg1832His |