Linked Data
ClinVar Variation Id:
2986497
ClinVar RCV Id:
RCV003844168
dbSNP Id:
rs768447647
ExAC:
20:10639145 T / C
gnomAD v2:
20-10639145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658497T>C , CM000682.2:g.10658497T>C | GRCh38 |
| NC_000020.10:g.10639145T>C , CM000682.1:g.10639145T>C | GRCh37 |
| NC_000020.9:g.10587145T>C | NCBI36 |
| NG_007496.1:g.20550A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.665A>G MANE Select | ENSP00000254958.4:p.Glu222Gly | |
| ENST00000254958.9:c.665A>G | ENSP00000254958.4:p.Glu222Gly | |
| ENST00000423891.6:n.531A>G | ||
| NM_000214.2:c.665A>G | NP_000205.1:p.Glu222Gly | |
| NM_000214.3:c.665A>G MANE Select | NP_000205.1:p.Glu222Gly |