Linked Data
ClinVar Variation Id:
165298
ClinVar RCV Id:
RCV000151937
dbSNP Id:
rs139956283
ExAC:
15:43892209 G / A
gnomAD v2:
15-43892209-G-A
gnomAD v3:
15-43600011-G-A
gnomAD v4:
15-43600011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600011G>A , CM000677.2:g.43600011G>A | GRCh38 |
| NC_000015.9:g.43892209G>A , CM000677.1:g.43892209G>A | GRCh37 |
| NC_000015.8:g.41679501G>A | NCBI36 |
| NG_011636.1:g.23790C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450892.7:c.5188C>T (STRC) MANE Select | ENSP00000401513.2:p.Arg1730Ter | |
| ENST00000411560.1:n.142+478G>A (CKMT1B) | ||
| ENST00000428650.5:c.*2221C>T (STRC) | ENSP00000415991.1:n.*2221C>T | |
| ENST00000440125.5:c.*2980C>T (STRC) | ENSP00000394866.1:n.*2980C>T | |
| ENST00000448437.6:n.2308C>T (STRC) | ||
| ENST00000450892.6:c.5188C>T (STRC) | ENSP00000401513.2:p.Arg1730Ter | |
| ENST00000471703.5:n.3142C>T (STRC) | ||
| ENST00000485556.5:n.4043C>T (STRC) | ||
| ENST00000541030.5:c.2869C>T (STRC) | ENSP00000440413.1:p.Arg957Ter | |
| NM_153700.2:c.5188C>T (STRC) MANE Select | NP_714544.1:p.Arg1730Ter | |
| XM_011521277.1:c.5677C>T (STRC) | XP_011519579.1:p.Arg1893Ter | |
| XM_011521278.1:c.5293C>T (STRC) | XP_011519580.1:p.Arg1765Ter | |
| XM_011521279.1:c.5293C>T (STRC) | XP_011519581.1:p.Arg1765Ter |