Linked Data
ClinVar Variation Id:
1958681
ClinVar RCV Id:
RCV002696199
dbSNP Id:
rs373898536
ExAC:
17:40696234 G / A
gnomAD v2:
17-40696234-G-A
gnomAD v3:
17-42544216-G-A
gnomAD v4:
17-42544216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544216G>A , CM000679.2:g.42544216G>A | GRCh38 |
| NC_000017.10:g.40696234G>A , CM000679.1:g.40696234G>A | GRCh37 |
| NC_000017.9:g.37949760G>A | NCBI36 |
| NG_011552.1:g.13284G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2210G>A MANE Select | ENSP00000225927.1:p.Arg737His | |
| ENST00000225927.6:c.2210G>A | ENSP00000225927.1:p.Arg737His | |
| NM_000263.3:c.2210G>A | NP_000254.2:p.Arg737His | |
| XM_006721920.2:c.1379G>A | XP_006721983.1:p.Arg460His | |
| XM_011524840.1:c.1211G>A | XP_011523142.1:p.Arg404His | |
| XM_017024687.1:c.1379G>A | XP_016880176.1:p.Arg460His | |
| XM_024450771.1:c.2267G>A | XP_024306539.1:p.Arg756His | |
| XM_024450772.1:c.1211G>A | XP_024306540.1:p.Arg404His | |
| NM_000263.4:c.2210G>A MANE Select | NP_000254.2:p.Arg737His |