Linked Data
ClinVar Variation Id:
426627
ClinVar RCV Id:
RCV000489490
dbSNP Id:
rs1085307717
COSMIC:
COSM4932120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853327A>C , CM000681.2:g.853327A>C | GRCh38 |
| NC_000019.9:g.853327A>C , CM000681.1:g.853327A>C | GRCh37 |
| NC_000019.8:g.804327A>C | NCBI36 |
| NG_009627.1:g.6037A>C , LRG_57:g.6037A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.290A>C MANE Select | ENSP00000263621.1:p.Gln97Pro | |
| ENST00000263621.1:c.290A>C | ENSP00000263621.1:p.Gln97Pro | |
| ENST00000590230.5:c.290A>C | ENSP00000466090.1:p.Gln97Pro | |
| NM_001972.2:c.290A>C , LRG_57t1:c.290A>C | NP_001963.1:p.Gln97Pro | |
| XM_011527775.1:c.290A>C | XP_011526077.1:p.Gln97Pro | |
| XM_011527776.1:c.290A>C | XP_011526078.1:p.Gln97Pro | |
| NM_001972.3:c.290A>C | NP_001963.1:p.Gln97Pro | |
| NM_001972.4:c.290A>C MANE Select | NP_001963.1:p.Gln97Pro |