Linked Data
ClinVar Variation Id:
432085
dbSNP Id:
rs1332613006
gnomAD v2:
2-189866305-G-A
gnomAD v4:
2-189001579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189001579G>A , CM000664.2:g.189001579G>A | GRCh38 |
| NC_000002.11:g.189866305G>A , CM000664.1:g.189866305G>A | GRCh37 |
| NC_000002.10:g.189574550G>A | NCBI36 |
| NG_007404.1:g.32207G>A , LRG_3:g.32207G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2282G>A | ENSP00000415346.2:p.Arg761His | |
| ENST00000304636.9:c.2381G>A MANE Select | ENSP00000304408.4:p.Arg794His | |
| ENST00000304636.7:c.2381G>A | ENSP00000304408.3:p.Arg794His | |
| ENST00000317840.9:c.2381G>A | ENSP00000315243.6:p.Arg794His | |
| NM_000090.3:c.2381G>A , LRG_3t1:c.2381G>A | NP_000081.1:p.Arg794His | |
| NM_000090.4:c.2381G>A MANE Select | NP_000081.2:p.Arg794His |