Linked Data
ClinVar Variation Id:
179758
dbSNP Id:
rs377480477
ExAC:
15:43895583 G / A
gnomAD v2:
15-43895583-G-A
gnomAD v3:
15-43603385-G-A
gnomAD v4:
15-43603385-G-A
PubMed:
PMID:25157971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43603385G>A , CM000677.2:g.43603385G>A | GRCh38 |
| NC_000015.9:g.43895583G>A , CM000677.1:g.43895583G>A | GRCh37 |
| NC_000015.8:g.41682875G>A | NCBI36 |
| NG_011636.1:g.20416C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450892.7:c.4402C>T (STRC) MANE Select | ENSP00000401513.2:p.Arg1468Ter | |
| ENST00000411560.1:n.143-1399G>A (CKMT1B) | ||
| ENST00000428650.5:c.*1578+611C>T (STRC) | ENSP00000415991.1:n.*1578+611C>T | |
| ENST00000440125.5:c.*2194C>T (STRC) | ENSP00000394866.1:n.*2194C>T | |
| ENST00000448437.6:n.1666-1834C>T (STRC) | ||
| ENST00000450892.6:c.4402C>T (STRC) | ENSP00000401513.2:p.Arg1468Ter | |
| ENST00000471703.5:n.2356C>T (STRC) | ||
| ENST00000485556.5:n.3257C>T (STRC) | ||
| ENST00000493750.1:n.198C>T (STRC) | ||
| ENST00000541030.5:c.2083C>T (STRC) | ENSP00000440413.1:p.Arg695Ter | |
| NM_153700.2:c.4402C>T (STRC) MANE Select | NP_714544.1:p.Arg1468Ter | |
| XM_011521277.1:c.4891C>T (STRC) | XP_011519579.1:p.Arg1631Ter | |
| XM_011521278.1:c.4507C>T (STRC) | XP_011519580.1:p.Arg1503Ter | |
| XM_011521279.1:c.4507C>T (STRC) | XP_011519581.1:p.Arg1503Ter |