Linked Data
ClinVar Variation Id:
165306
ClinVar RCV Id:
RCV000151945
dbSNP Id:
rs138763871
ExAC:
15:43893734 G / A
gnomAD v2:
15-43893734-G-A
gnomAD v3:
15-43601536-G-A
gnomAD v4:
15-43601536-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601536G>A , CM000677.2:g.43601536G>A | GRCh38 |
| NC_000015.9:g.43893734G>A , CM000677.1:g.43893734G>A | GRCh37 |
| NC_000015.8:g.41681026G>A | NCBI36 |
| NG_011636.1:g.22265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4561C>T (STRC) MANE Select | ENSP00000401513.2:p.Arg1521Trp | |
| ENST00000411560.1:n.142+2003G>A (CKMT1B) | ||
| ENST00000428650.5:c.*1594C>T (STRC) | ENSP00000415991.1:n.*1594C>T | |
| ENST00000440125.5:c.*2353C>T (STRC) | ENSP00000394866.1:n.*2353C>T | |
| ENST00000448437.6:n.1681C>T (STRC) | ||
| ENST00000450892.6:c.4561C>T (STRC) | ENSP00000401513.2:p.Arg1521Trp | |
| ENST00000460952.1:n.140C>T (STRC) | ||
| ENST00000471703.5:n.2515C>T (STRC) | ||
| ENST00000485556.5:n.3416C>T (STRC) | ||
| ENST00000493750.1:n.357C>T (STRC) | ||
| ENST00000541030.5:c.2242C>T (STRC) | ENSP00000440413.1:p.Arg748Trp | |
| NM_153700.2:c.4561C>T (STRC) MANE Select | NP_714544.1:p.Arg1521Trp | |
| XM_011521277.1:c.5050C>T (STRC) | XP_011519579.1:p.Arg1684Trp | |
| XM_011521278.1:c.4666C>T (STRC) | XP_011519580.1:p.Arg1556Trp | |
| XM_011521279.1:c.4666C>T (STRC) | XP_011519581.1:p.Arg1556Trp |