Linked Data
ClinVar Variation Id:
880897
ClinVar RCV Id:
RCV001109504
dbSNP Id:
rs568165874
ExAC:
12:58157521 C / T
gnomAD v2:
12-58157521-C-T
gnomAD v3:
12-57763738-C-T
gnomAD v4:
12-57763738-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763738C>T , CM000674.2:g.57763738C>T | GRCh38 |
| NC_000012.11:g.58157521C>T , CM000674.1:g.58157521C>T | GRCh37 |
| NC_000012.10:g.56443788C>T | NCBI36 |
| NG_007076.1:g.8456G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1367G>A | ENSP00000518840.1:p.Arg456His | |
| ENST00000713545.1:c.*291G>A | ENSP00000518841.1:n.*291G>A | |
| ENST00000228606.9:c.1286G>A MANE Select | ENSP00000228606.4:p.Arg429His | |
| ENST00000228606.8:c.1286G>A | ENSP00000228606.4:p.Arg429His | |
| ENST00000547344.5:n.1425G>A | ||
| NM_000785.3:c.1286G>A | NP_000776.1:p.Arg429His | |
| NM_000785.4:c.1286G>A MANE Select | NP_000776.1:p.Arg429His |