Linked Data
ClinVar Variation Id:
11199
dbSNP Id:
rs28935479
gnomAD v2:
X-25031256-C-T
gnomAD v4:
X-25013139-C-T
PubMed:
PMID:11971879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013139C>T , CM000685.2:g.25013139C>T | GRCh38 |
| NC_000023.10:g.25031256C>T , CM000685.1:g.25031256C>T | GRCh37 |
| NC_000023.9:g.24941177C>T | NCBI36 |
| NG_008281.1:g.7810G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.856G>A MANE Select | ENSP00000368332.4:p.Gly286Ser | |
| ENST00000379044.4:c.856G>A | ENSP00000368332.4:p.Gly286Ser | |
| NM_139058.2:c.856G>A | NP_620689.1:p.Gly286Ser | |
| NM_139058.3:c.856G>A MANE Select | NP_620689.1:p.Gly286Ser |