Linked Data
ClinVar Variation Id:
1142180
ClinVar RCV Id:
RCV001796514
dbSNP Id:
rs762273987
MyVariant Identifiers:
chr19:g.856146G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.856146G>C , CM000681.2:g.856146G>C | GRCh38 |
| NC_000019.9:g.856146G>C , CM000681.1:g.856146G>C | GRCh37 |
| NC_000019.8:g.807146G>C | NCBI36 |
| NG_007274.1:g.1482G>C , LRG_46:g.1482G>C | |
| NG_009627.1:g.8856G>C , LRG_57:g.8856G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.786G>C MANE Select | ENSP00000263621.1:p.Pro262= | |
| ENST00000263621.1:c.786G>C | ENSP00000263621.1:p.Pro262= | |
| ENST00000590230.5:c.786G>C | ENSP00000466090.1:p.Pro262= | |
| NM_001972.2:c.786G>C , LRG_57t1:c.786G>C | NP_001963.1:p.Pro262= | |
| XM_011527775.1:c.786G>C | XP_011526077.1:p.Pro262= | |
| XM_011527776.1:c.786G>C | XP_011526078.1:p.Pro262= | |
| NM_001972.3:c.786G>C | NP_001963.1:p.Pro262= | |
| NM_001972.4:c.786G>C MANE Select | NP_001963.1:p.Pro262= |