Linked Data
ClinVar Variation Id:
263781
dbSNP Id:
rs147793030
ExAC:
20:10622246 G / A
gnomAD v2:
20-10622246-G-A
gnomAD v3:
20-10641598-G-A
gnomAD v4:
20-10641598-G-A
PubMed:
PMID:22040217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641598G>A , CM000682.2:g.10641598G>A | GRCh38 |
| NC_000020.10:g.10622246G>A , CM000682.1:g.10622246G>A | GRCh37 |
| NC_000020.9:g.10570246G>A | NCBI36 |
| NG_007496.1:g.37449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2778C>T MANE Select | ENSP00000254958.4:p.Phe926= | |
| ENST00000617965.2:n.3367C>T | ||
| ENST00000254958.9:c.2778C>T | ENSP00000254958.4:p.Phe926= | |
| ENST00000423891.6:n.2644C>T | ||
| NM_000214.2:c.2778C>T | NP_000205.1:p.Phe926= | |
| NM_000214.3:c.2778C>T MANE Select | NP_000205.1:p.Phe926= |