Linked Data
ClinVar Variation Id:
1985912
ClinVar RCV Id:
RCV002785792
dbSNP Id:
rs200005567
ExAC:
19:15651359 G / A
gnomAD v2:
19-15651359-G-A
gnomAD v3:
19-15540548-G-A
gnomAD v4:
19-15540548-G-A
COSMIC:
COSM992281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540548G>A , CM000681.2:g.15540548G>A | GRCh38 |
| NC_000019.9:g.15651359G>A , CM000681.1:g.15651359G>A | GRCh37 |
| NC_000019.8:g.15512359G>A | NCBI36 |
| NG_007987.1:g.37024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.770G>A MANE Select | ENSP00000269703.1:p.Arg257His | |
| ENST00000269703.7:c.770G>A | ENSP00000269703.1:p.Arg257His | |
| ENST00000601005.2:c.770G>A | ENSP00000469866.1:p.Arg257His | |
| NM_173483.3:c.770G>A | NP_775754.2:p.Arg257His | |
| XM_011527692.1:c.770G>A | XP_011525994.1:p.Arg257His | |
| XM_011527693.1:c.770G>A | XP_011525995.1:p.Arg257His | |
| XM_011527692.2:c.770G>A | XP_011525994.1:p.Arg257His | |
| XM_011527693.2:c.770G>A | XP_011525995.1:p.Arg257His | |
| NM_173483.4:c.770G>A MANE Select | NP_775754.2:p.Arg257His |