Linked Data
ClinVar Variation Id:
36768
ClinVar RCV Id:
RCV000148868
RCV000232749
RCV000505348
RCV000568010
RCV000607044
RCV000662963
RCV000986269
RCV001253761
RCV001731321
RCV002250465
RCV002250466
RCV002477028
dbSNP Id:
rs111430410
ExAC:
1:17380483 C / T
gnomAD v2:
1-17380483-C-T
gnomAD v3:
1-17053988-C-T
gnomAD v4:
1-17053988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17053988C>T , CM000663.2:g.17053988C>T | GRCh38 |
| NC_000001.10:g.17380483C>T , CM000663.1:g.17380483C>T | GRCh37 |
| NC_000001.9:g.17253070C>T | NCBI36 |
| NG_012340.1:g.5183G>A , LRG_316:g.5183G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375499.8:c.32G>A MANE Select | ENSP00000364649.3:p.Arg11His | |
| ENST00000375499.7:c.32G>A | ENSP00000364649.3:p.Arg11His | |
| ENST00000466613.2:n.44G>A | ||
| ENST00000485515.5:n.20G>A | ||
| NM_003000.2:c.32G>A , LRG_316t1:c.32G>A | NP_002991.2:p.Arg11His | |
| NM_003000.3:c.32G>A MANE Select | NP_002991.2:p.Arg11His |