Linked Data
ClinVar Variation Id:
2914339
ClinVar RCV Id:
RCV003642275
dbSNP Id:
rs781302303
ExAC:
8:74893622 C / T
gnomAD v2:
8-74893622-C-T
gnomAD v4:
8-73981387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73981387C>T , CM000670.2:g.73981387C>T | GRCh38 |
| NC_000008.10:g.74893622C>T , CM000670.1:g.74893622C>T | GRCh37 |
| NC_000008.9:g.75056176C>T | NCBI36 |
| NG_016618.1:g.10246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312184.6:c.549C>T MANE Select | ENSP00000312599.5:p.Thr183= | |
| ENST00000312184.5:c.549C>T | ENSP00000312599.5:p.Thr183= | |
| ENST00000416961.6:c.*306C>T | ENSP00000407695.2:n.*306C>T | |
| ENST00000519551.1:n.440C>T | ||
| NM_001040613.2:c.*239C>T | NP_001035703.1:n.*239C>T | |
| NM_017866.5:c.549C>T | NP_060336.3:p.Thr183= | |
| NR_033334.1:n.782C>T | ||
| NM_017866.6:c.549C>T MANE Select | NP_060336.3:p.Thr183= | |
| NM_001040613.3:c.*239C>T | NP_001035703.1:n.*239C>T | |
| NR_033334.2:n.729C>T |