Linked Data
ClinVar Variation Id:
296849
dbSNP Id:
rs761468576
ExAC:
1:24134641 G / A
gnomAD v2:
1-24134641-G-A
gnomAD v4:
1-23808151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23808151G>A , CM000663.2:g.23808151G>A | GRCh38 |
| NC_000001.10:g.24134641G>A , CM000663.1:g.24134641G>A | GRCh37 |
| NC_000001.9:g.24007228G>A | NCBI36 |
| NG_013061.1:g.22309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.734C>T MANE Select | ENSP00000363614.3:p.Thr245Ile | |
| ENST00000235958.4:c.304C>T | ||
| ENST00000374487.6:c.*775C>T | ENSP00000363611.2:n.*775C>T | |
| ENST00000374490.7:c.734C>T | ENSP00000363614.3:p.Thr245Ile | |
| ENST00000436439.6:c.521C>T | ENSP00000389281.2:p.Thr174Ile | |
| ENST00000496907.1:n.369C>T | ||
| ENST00000509389.5:n.425C>T | ||
| NM_000191.2:c.734C>T | NP_000182.2:p.Thr245Ile | |
| NM_001166059.1:c.521C>T | NP_001159531.1:p.Thr174Ile | |
| NM_000191.3:c.734C>T MANE Select | NP_000182.2:p.Thr245Ile | |
| NM_001166059.2:c.521C>T | NP_001159531.1:p.Thr174Ile |