Linked Data
ClinVar Variation Id:
325871
ClinVar RCV Id:
RCV000315763
dbSNP Id:
rs542074777
ExAC:
17:7976538 C / A
gnomAD v2:
17-7976538-C-A
gnomAD v3:
17-8073220-C-A
gnomAD v4:
17-8073220-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8073220C>A , CM000679.2:g.8073220C>A | GRCh38 |
| NC_000017.10:g.7976538C>A , CM000679.1:g.7976538C>A | GRCh37 |
| NC_000017.9:g.7917263C>A | NCBI36 |
| NG_007099.1:g.19484G>T | |
| NG_007099.2:g.19497G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1854G>T MANE Select | ENSP00000497784.1:p.Thr618= | |
| ENST00000649809.1:c.918G>T | ENSP00000496845.1:p.Thr306= | |
| ENST00000650441.1:n.277G>T | ||
| ENST00000319144.4:c.1854G>T | ENSP00000315167.4:p.Thr618= | |
| ENST00000577351.5:n.578G>T | ||
| NM_001139.2:c.1854G>T | NP_001130.1:p.Thr618= | |
| NM_001139.3:c.1854G>T MANE Select | NP_001130.1:p.Thr618= |