Linked Data
ClinVar Variation Id:
917085
dbSNP Id:
rs750051388
ExAC:
18:29172864 C / T
gnomAD v2:
18-29172864-C-T
gnomAD v3:
18-31592901-C-T
gnomAD v4:
18-31592901-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592901C>T , CM000680.2:g.31592901C>T | GRCh38 |
| NC_000018.9:g.29172864C>T , CM000680.1:g.29172864C>T | GRCh37 |
| NC_000018.8:g.27426862C>T | NCBI36 |
| NG_009490.1:g.6135C>T , LRG_416:g.6135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.75C>T MANE Select | ENSP00000237014.4:p.Thr25= | |
| ENST00000610404.5:c.-22C>T | ENSP00000477599.2:n.-22C>T | |
| ENST00000649620.1:c.75C>T | ENSP00000497927.1:p.Thr25= | |
| ENST00000237014.7:c.75C>T | ENSP00000237014.3:p.Thr25= | |
| ENST00000432547.7:n.101C>T | ||
| ENST00000541025.2:n.101C>T | ||
| ENST00000610404.4:c.75C>T | ENSP00000477599.1:p.Thr25= | |
| ENST00000613781.1:c.75C>T | ENSP00000479174.1:p.Thr25= | |
| NM_000371.3:c.75C>T , LRG_416t1:c.75C>T | NP_000362.1:p.Thr25= | |
| NM_000371.4:c.75C>T MANE Select | NP_000362.1:p.Thr25= |