Linked Data
ClinVar Variation Id:
1750886
ClinVar RCV Id:
RCV002357873
dbSNP Id:
rs773002707
ExAC:
8:19811687 C / T
gnomAD v2:
8-19811687-C-T
gnomAD v4:
8-19954176-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954176C>T , CM000670.2:g.19954176C>T | GRCh38 |
| NC_000008.10:g.19811687C>T , CM000670.1:g.19811687C>T | GRCh37 |
| NC_000008.9:g.19855967C>T | NCBI36 |
| NG_008855.1:g.20106C>T | |
| NG_008855.2:g.57460C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.598C>T MANE Select | ENSP00000497642.1:p.Pro200Ser | |
| ENST00000311322.8:c.598C>T | ENSP00000309757.6:p.Pro200Ser | |
| NM_000237.2:c.598C>T | NP_000228.1:p.Pro200Ser | |
| NM_000237.3:c.598C>T MANE Select | NP_000228.1:p.Pro200Ser |