Linked Data
ClinVar Variation Id:
178634
ClinVar RCV Id:
RCV000155389
dbSNP Id:
rs12438025
ExAC:
15:43892847 G / C
gnomAD v2:
15-43892847-G-C
gnomAD v3:
15-43600649-G-C
gnomAD v4:
15-43600649-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600649G>C , CM000677.2:g.43600649G>C | GRCh38 |
| NC_000015.9:g.43892847G>C , CM000677.1:g.43892847G>C | GRCh37 |
| NC_000015.8:g.41680139G>C | NCBI36 |
| NG_011636.1:g.23152C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450892.7:c.4878C>G (STRC) MANE Select | ENSP00000401513.2:p.Leu1626= | |
| ENST00000411560.1:n.142+1116G>C (CKMT1B) | ||
| ENST00000428650.5:c.*1911C>G (STRC) | ENSP00000415991.1:n.*1911C>G | |
| ENST00000440125.5:c.*2670C>G (STRC) | ENSP00000394866.1:n.*2670C>G | |
| ENST00000448437.6:n.1998C>G (STRC) | ||
| ENST00000450892.6:c.4878C>G (STRC) | ENSP00000401513.2:p.Leu1626= | |
| ENST00000460952.1:n.457C>G (STRC) | ||
| ENST00000471703.5:n.2832C>G (STRC) | ||
| ENST00000485556.5:n.3733C>G (STRC) | ||
| ENST00000541030.5:c.2559C>G (STRC) | ENSP00000440413.1:p.Leu853= | |
| NM_153700.2:c.4878C>G (STRC) MANE Select | NP_714544.1:p.Leu1626= | |
| XM_011521277.1:c.5367C>G (STRC) | XP_011519579.1:p.Leu1789= | |
| XM_011521278.1:c.4983C>G (STRC) | XP_011519580.1:p.Leu1661= | |
| XM_011521279.1:c.4983C>G (STRC) | XP_011519581.1:p.Leu1661= |