Linked Data
ClinVar Variation Id:
450926
ClinVar RCV Id:
RCV000523652
dbSNP Id:
rs762262248
ExAC:
15:43893614 C / G
gnomAD v2:
15-43893614-C-G
gnomAD v3:
15-43601416-C-G
gnomAD v4:
15-43601416-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601416C>G , CM000677.2:g.43601416C>G | GRCh38 |
| NC_000015.9:g.43893614C>G , CM000677.1:g.43893614C>G | GRCh37 |
| NC_000015.8:g.41680906C>G | NCBI36 |
| NG_011636.1:g.22385G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4681G>C (STRC) MANE Select | ENSP00000401513.2:p.Asp1561His | |
| ENST00000411560.1:n.142+1883C>G (CKMT1B) | ||
| ENST00000428650.5:c.*1714G>C (STRC) | ENSP00000415991.1:n.*1714G>C | |
| ENST00000440125.5:c.*2473G>C (STRC) | ENSP00000394866.1:n.*2473G>C | |
| ENST00000448437.6:n.1801G>C (STRC) | ||
| ENST00000450892.6:c.4681G>C (STRC) | ENSP00000401513.2:p.Asp1561His | |
| ENST00000460952.1:n.260G>C (STRC) | ||
| ENST00000471703.5:n.2635G>C (STRC) | ||
| ENST00000485556.5:n.3536G>C (STRC) | ||
| ENST00000493750.1:n.477G>C (STRC) | ||
| ENST00000541030.5:c.2362G>C (STRC) | ENSP00000440413.1:p.Asp788His | |
| NM_153700.2:c.4681G>C (STRC) MANE Select | NP_714544.1:p.Asp1561His | |
| XM_011521277.1:c.5170G>C (STRC) | XP_011519579.1:p.Asp1724His | |
| XM_011521278.1:c.4786G>C (STRC) | XP_011519580.1:p.Asp1596His | |
| XM_011521279.1:c.4786G>C (STRC) | XP_011519581.1:p.Asp1596His |