Linked Data
ClinVar Variation Id:
499237
dbSNP Id:
rs769443188
gnomAD v2:
15-43893077-C-A
gnomAD v3:
15-43600879-C-A
gnomAD v4:
15-43600879-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600879C>A , CM000677.2:g.43600879C>A | GRCh38 |
| NC_000015.9:g.43893077C>A , CM000677.1:g.43893077C>A | GRCh37 |
| NC_000015.8:g.41680369C>A | NCBI36 |
| NG_011636.1:g.22922G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450892.7:c.4837G>T (STRC) MANE Select | ENSP00000401513.2:p.Glu1613Ter | |
| ENST00000411560.1:n.142+1346C>A (CKMT1B) | ||
| ENST00000428650.5:c.*1870G>T (STRC) | ENSP00000415991.1:n.*1870G>T | |
| ENST00000440125.5:c.*2629G>T (STRC) | ENSP00000394866.1:n.*2629G>T | |
| ENST00000448437.6:n.1957G>T (STRC) | ||
| ENST00000450892.6:c.4837G>T (STRC) | ENSP00000401513.2:p.Glu1613Ter | |
| ENST00000460952.1:n.416G>T (STRC) | ||
| ENST00000471703.5:n.2791G>T (STRC) | ||
| ENST00000485556.5:n.3692G>T (STRC) | ||
| ENST00000541030.5:c.2518G>T (STRC) | ENSP00000440413.1:p.Glu840Ter | |
| NM_153700.2:c.4837G>T (STRC) MANE Select | NP_714544.1:p.Glu1613Ter | |
| XM_011521277.1:c.5326G>T (STRC) | XP_011519579.1:p.Glu1776Ter | |
| XM_011521278.1:c.4942G>T (STRC) | XP_011519580.1:p.Glu1648Ter | |
| XM_011521279.1:c.4942G>T (STRC) | XP_011519581.1:p.Glu1648Ter |