Linked Data
ClinVar Variation Id:
2991484
ClinVar RCV Id:
RCV003842627
dbSNP Id:
rs768380374
ExAC:
13:28498544 C / G
gnomAD v2:
13-28498544-C-G
gnomAD v3:
13-27924407-C-G
gnomAD v4:
13-27924407-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924407C>G , CM000675.2:g.27924407C>G | GRCh38 |
| NC_000013.10:g.28498544C>G , CM000675.1:g.28498544C>G | GRCh37 |
| NC_000013.9:g.27396544C>G | NCBI36 |
| NG_008183.1:g.9377C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.558C>G MANE Select | ENSP00000370421.4:p.Thr186= | |
| ENST00000381033.4:c.558C>G | ENSP00000370421.4:p.Thr186= | |
| NM_000209.3:c.558C>G | NP_000200.1:p.Thr186= | |
| NM_000209.4:c.558C>G MANE Select | NP_000200.1:p.Thr186= |