Linked Data
ClinVar Variation Id:
447612
dbSNP Id:
rs201504073
ExAC:
12:5020604 G / C
gnomAD v2:
12-5020604-G-C
gnomAD v3:
12-4911438-G-C
gnomAD v4:
12-4911438-G-C
COSMIC:
COSM2008451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911438G>C , CM000674.2:g.4911438G>C | GRCh38 |
| NC_000012.11:g.5020604G>C , CM000674.1:g.5020604G>C | GRCh37 |
| NC_000012.10:g.4890865G>C | NCBI36 |
| NG_011815.1:g.6532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.60G>C MANE Select | ENSP00000371985.3:p.Gln20His | |
| ENST00000543874.3:n.105+966G>C | ||
| ENST00000382545.3:c.60G>C | ENSP00000371985.3:p.Gln20His | |
| ENST00000541095.1:n.105+966G>C | ||
| ENST00000543874.2:n.96+966G>C | ||
| NM_000217.2:c.60G>C | NP_000208.2:p.Gln20His | |
| NM_000217.3:c.60G>C MANE Select | NP_000208.2:p.Gln20His |