Linked Data
ClinVar Variation Id:
1745601
ClinVar RCV Id:
RCV002344248
dbSNP Id:
rs2067394225
MyVariant Identifiers:
chr20:g.10639297C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658649C>T , CM000682.2:g.10658649C>T | GRCh38 |
| NC_000020.10:g.10639297C>T , CM000682.1:g.10639297C>T | GRCh37 |
| NC_000020.9:g.10587297C>T | NCBI36 |
| NG_007496.1:g.20398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.513G>A MANE Select | ENSP00000254958.4:p.Lys171= | |
| ENST00000254958.9:c.513G>A | ENSP00000254958.4:p.Lys171= | |
| ENST00000423891.6:n.379G>A | ||
| NM_000214.2:c.513G>A | NP_000205.1:p.Lys171= | |
| NM_000214.3:c.513G>A MANE Select | NP_000205.1:p.Lys171= |