Linked Data
ClinVar Variation Id:
350014
dbSNP Id:
rs748654180
gnomAD v2:
4-88929241-G-A
gnomAD v3:
4-88008089-G-A
gnomAD v4:
4-88008089-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008089G>A , CM000666.2:g.88008089G>A | GRCh38 |
| NC_000004.11:g.88929241G>A , CM000666.1:g.88929241G>A | GRCh37 |
| NC_000004.10:g.89148265G>A | NCBI36 |
| NG_008604.1:g.5422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.356G>A MANE Select | ENSP00000237596.2:p.Arg119His | |
| ENST00000237596.6:c.356G>A | ENSP00000237596.2:p.Arg119His | |
| NM_000297.3:c.356G>A | NP_000288.1:p.Arg119His | |
| XM_011532028.1:c.356G>A | XP_011530330.1:p.Arg119His | |
| XR_244632.2:n.451G>A | ||
| NR_156488.1:n.443G>A | ||
| XM_011532028.2:c.356G>A | XP_011530330.1:p.Arg119His | |
| NM_000297.4:c.356G>A MANE Select | NP_000288.1:p.Arg119His | |
| NR_156488.2:n.455G>A |