Linked Data
ClinVar Variation Id:
1754776
ClinVar RCV Id:
RCV002366938
dbSNP Id:
rs1708204425
MyVariant Identifiers:
chr1:g.15772118C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445623C>T , CM000663.2:g.15445623C>T | GRCh38 |
| NC_000001.10:g.15772118C>T , CM000663.1:g.15772118C>T | GRCh37 |
| NC_000001.9:g.15644705C>T | NCBI36 |
| NG_009253.1:g.12181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.666C>T MANE Select | ENSP00000365116.4:p.Cys222= | |
| ENST00000375943.6:c.*120C>T | ENSP00000365110.2:n.*120C>T | |
| ENST00000375949.4:c.666C>T | ENSP00000365116.4:p.Cys222= | |
| ENST00000483406.1:n.430C>T | ||
| NM_007272.2:c.666C>T | NP_009203.2:p.Cys222= | |
| XM_011540550.1:c.520C>T | XP_011538852.1:p.Pro174Ser | |
| NM_007272.3:c.666C>T MANE Select | NP_009203.2:p.Cys222= |