Linked Data
ClinVar Variation Id:
16963
ClinVar RCV Id:
RCV000018476
dbSNP Id:
rs104893896
ExAC:
5:174156297 G / A
gnomAD v2:
5-174156297-G-A
gnomAD v3:
5-174729294-G-A
gnomAD v4:
5-174729294-G-A
PubMed:
PMID:10742103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729294G>A , CM000667.2:g.174729294G>A | GRCh38 |
| NC_000005.9:g.174156297G>A , CM000667.1:g.174156297G>A | GRCh37 |
| NC_000005.8:g.174088903G>A | NCBI36 |
| NG_008124.1:g.9723G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000239243.7:c.515G>A MANE Select | ENSP00000239243.5:p.Arg172His | |
| ENST00000239243.6:c.515G>A | ENSP00000239243.5:p.Arg172His | |
| ENST00000507785.2:c.*139G>A | ENSP00000427425.1:n.*139G>A | |
| NM_002449.4:c.515G>A | NP_002440.2:p.Arg172His | |
| NM_001363626.1:c.*139G>A | NP_001350555.1:n.*139G>A | |
| NM_002449.5:c.515G>A MANE Select | NP_002440.2:p.Arg172His | |
| NM_001363626.2:c.*139G>A | NP_001350555.1:n.*139G>A |