Linked Data
ClinVar Variation Id:
517451
ClinVar RCV Id:
RCV000604920
dbSNP Id:
rs376104748
ExAC:
15:43896606 G / A
gnomAD v2:
15-43896606-G-A
gnomAD v3:
15-43604408-G-A
gnomAD v4:
15-43604408-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43604408G>A , CM000677.2:g.43604408G>A | GRCh38 |
| NC_000015.9:g.43896606G>A , CM000677.1:g.43896606G>A | GRCh37 |
| NC_000015.8:g.41683898G>A | NCBI36 |
| NG_011636.1:g.19393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4171C>T (STRC) MANE Select | ENSP00000401513.2:p.Arg1391Cys | |
| ENST00000411560.1:n.143-376G>A (CKMT1B) | ||
| ENST00000428650.5:c.*1374C>T (STRC) | ENSP00000415991.1:n.*1374C>T | |
| ENST00000440125.5:c.*1963C>T (STRC) | ENSP00000394866.1:n.*1963C>T | |
| ENST00000448437.6:n.1666-2857C>T (STRC) | ||
| ENST00000450892.6:c.4171C>T (STRC) | ENSP00000401513.2:p.Arg1391Cys | |
| ENST00000471703.5:n.2125C>T (STRC) | ||
| ENST00000485556.5:n.3026C>T (STRC) | ||
| ENST00000541030.5:c.1852C>T (STRC) | ENSP00000440413.1:p.Arg618Cys | |
| NM_153700.2:c.4171C>T (STRC) MANE Select | NP_714544.1:p.Arg1391Cys | |
| XM_011521277.1:c.4660C>T (STRC) | XP_011519579.1:p.Arg1554Cys | |
| XM_011521278.1:c.4276C>T (STRC) | XP_011519580.1:p.Arg1426Cys | |
| XM_011521279.1:c.4276C>T (STRC) | XP_011519581.1:p.Arg1426Cys |