Linked Data
ClinVar Variation Id:
178529
ClinVar RCV Id:
RCV000155277
dbSNP Id:
rs141749062
ExAC:
15:43892218 C / G
gnomAD v2:
15-43892218-C-G
gnomAD v3:
15-43600020-C-G
gnomAD v4:
15-43600020-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600020C>G , CM000677.2:g.43600020C>G | GRCh38 |
| NC_000015.9:g.43892218C>G , CM000677.1:g.43892218C>G | GRCh37 |
| NC_000015.8:g.41679510C>G | NCBI36 |
| NG_011636.1:g.23781G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.5179G>C (STRC) MANE Select | ENSP00000401513.2:p.Glu1727Gln | |
| ENST00000411560.1:n.142+487C>G (CKMT1B) | ||
| ENST00000428650.5:c.*2212G>C (STRC) | ENSP00000415991.1:n.*2212G>C | |
| ENST00000440125.5:c.*2971G>C (STRC) | ENSP00000394866.1:n.*2971G>C | |
| ENST00000448437.6:n.2299G>C (STRC) | ||
| ENST00000450892.6:c.5179G>C (STRC) | ENSP00000401513.2:p.Glu1727Gln | |
| ENST00000471703.5:n.3133G>C (STRC) | ||
| ENST00000485556.5:n.4034G>C (STRC) | ||
| ENST00000541030.5:c.2860G>C (STRC) | ENSP00000440413.1:p.Glu954Gln | |
| NM_153700.2:c.5179G>C (STRC) MANE Select | NP_714544.1:p.Glu1727Gln | |
| XM_011521277.1:c.5668G>C (STRC) | XP_011519579.1:p.Glu1890Gln | |
| XM_011521278.1:c.5284G>C (STRC) | XP_011519580.1:p.Glu1762Gln | |
| XM_011521279.1:c.5284G>C (STRC) | XP_011519581.1:p.Glu1762Gln |