Linked Data
ClinVar Variation Id:
978
ClinVar RCV Id:
RCV000001029
dbSNP Id:
rs121918162
ExAC:
17:29325767 G / A
gnomAD v2:
17-29325767-G-A
gnomAD v3:
17-30998749-G-A
gnomAD v4:
17-30998749-G-A
COSMIC:
COSM277082
PubMed:
PMID:17632510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998749G>A , CM000679.2:g.30998749G>A | GRCh38 |
| NC_000017.10:g.29325767G>A , CM000679.1:g.29325767G>A | GRCh37 |
| NC_000017.9:g.26349893G>A | NCBI36 |
| NG_011701.1:g.32812G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328381.10:c.857G>A MANE Select | ENSP00000328340.5:p.Arg286His | |
| ENST00000324689.8:c.*61G>A | ENSP00000323693.4:n.*61G>A | |
| ENST00000328381.9:c.857G>A | ENSP00000328340.5:p.Arg286His | |
| ENST00000443677.6:c.*61G>A | ENSP00000411965.2:n.*61G>A | |
| ENST00000535306.6:c.*61G>A | ENSP00000440470.2:n.*61G>A | |
| NM_001184992.1:c.*61G>A | NP_001171921.1:n.*61G>A | |
| NM_032322.3:c.857G>A | NP_115698.3:p.Arg286His | |
| NM_197939.1:c.*61G>A | NP_922921.1:n.*61G>A | |
| XM_005258043.3:c.314G>A | XP_005258100.1:p.Arg105His | |
| XM_006722138.2:c.536G>A | XP_006722201.1:p.Arg179His | |
| XM_017025223.1:c.314G>A | XP_016880712.1:p.Arg105His | |
| XM_024451000.1:c.314G>A | XP_024306768.1:p.Arg105His | |
| XM_024451001.1:c.314G>A | XP_024306769.1:p.Arg105His | |
| XR_002958076.1:n.1190G>A | ||
| XR_002958077.1:n.1125G>A | ||
| XR_002958078.1:n.962G>A | ||
| NM_032322.4:c.857G>A MANE Select | NP_115698.3:p.Arg286His | |
| NM_001184992.2:c.*61G>A | NP_001171921.1:n.*61G>A | |
| NM_197939.2:c.*61G>A | NP_922921.1:n.*61G>A |