Linked Data
ClinVar Variation Id:
2262853
dbSNP Id:
rs920618508
gnomAD v2:
17-42429498-G-A
gnomAD v3:
17-44352130-G-A
gnomAD v4:
17-44352130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352130G>A , CM000679.2:g.44352130G>A | GRCh38 |
| NC_000017.10:g.42429498G>A , CM000679.1:g.42429498G>A | GRCh37 |
| NC_000017.9:g.39785024G>A | NCBI36 |
| NG_007886.1:g.12008G>A , LRG_661:g.12008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1295G>A MANE Select | ENSP00000053867.2:p.Arg432His | |
| ENST00000639447.1:c.1136+378G>A | ENSP00000492014.1:n.1136+378G>A | |
| ENST00000053867.7:c.1295G>A | ENSP00000053867.2:p.Arg432His | |
| ENST00000586443.1:c.736G>A | ||
| ENST00000589265.5:c.824G>A | ENSP00000467616.1:p.Arg275His | |
| NM_002087.3:c.1295G>A | NP_002078.1:p.Arg432His | |
| XM_005257253.1:c.1295G>A | XP_005257310.1:p.Arg432His | |
| XM_024450730.1:c.1295G>A | XP_024306498.1:p.Arg432His | |
| NM_002087.4:c.1295G>A MANE Select | NP_002078.1:p.Arg432His |