Linked Data
ClinVar Variation Id:
165310
ClinVar RCV Id:
RCV000151949
dbSNP Id:
rs371513959
ExAC:
15:43896582 C / A
gnomAD v2:
15-43896582-C-A
gnomAD v3:
15-43604384-C-A
gnomAD v4:
15-43604384-C-A
PubMed:
PMID:25157971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43604384C>A , CM000677.2:g.43604384C>A | GRCh38 |
| NC_000015.9:g.43896582C>A , CM000677.1:g.43896582C>A | GRCh37 |
| NC_000015.8:g.41683874C>A | NCBI36 |
| NG_011636.1:g.19417G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450892.7:c.4195G>T (STRC) MANE Select | ENSP00000401513.2:p.Glu1399Ter | |
| ENST00000411560.1:n.143-400C>A (CKMT1B) | ||
| ENST00000428650.5:c.*1398G>T (STRC) | ENSP00000415991.1:n.*1398G>T | |
| ENST00000440125.5:c.*1987G>T (STRC) | ENSP00000394866.1:n.*1987G>T | |
| ENST00000448437.6:n.1666-2833G>T (STRC) | ||
| ENST00000450892.6:c.4195G>T (STRC) | ENSP00000401513.2:p.Glu1399Ter | |
| ENST00000471703.5:n.2149G>T (STRC) | ||
| ENST00000485556.5:n.3050G>T (STRC) | ||
| ENST00000541030.5:c.1876G>T (STRC) | ENSP00000440413.1:p.Glu626Ter | |
| NM_153700.2:c.4195G>T (STRC) MANE Select | NP_714544.1:p.Glu1399Ter | |
| XM_011521277.1:c.4684G>T (STRC) | XP_011519579.1:p.Glu1562Ter | |
| XM_011521278.1:c.4300G>T (STRC) | XP_011519580.1:p.Glu1434Ter | |
| XM_011521279.1:c.4300G>T (STRC) | XP_011519581.1:p.Glu1434Ter |