Linked Data
ClinVar Variation Id:
227968
ClinVar RCV Id:
RCV000219031
dbSNP Id:
rs140545217
ExAC:
15:43896309 C / T
gnomAD v2:
15-43896309-C-T
gnomAD v3:
15-43604111-C-T
gnomAD v4:
15-43604111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43604111C>T , CM000677.2:g.43604111C>T | GRCh38 |
| NC_000015.9:g.43896309C>T , CM000677.1:g.43896309C>T | GRCh37 |
| NC_000015.8:g.41683601C>T | NCBI36 |
| NG_011636.1:g.19690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4260G>A (STRC) MANE Select | ENSP00000401513.2:p.Lys1420= | |
| ENST00000411560.1:n.143-673C>T (CKMT1B) | ||
| ENST00000428650.5:c.*1463G>A (STRC) | ENSP00000415991.1:n.*1463G>A | |
| ENST00000440125.5:c.*2052G>A (STRC) | ENSP00000394866.1:n.*2052G>A | |
| ENST00000448437.6:n.1666-2560G>A (STRC) | ||
| ENST00000450892.6:c.4260G>A (STRC) | ENSP00000401513.2:p.Lys1420= | |
| ENST00000471703.5:n.2214G>A (STRC) | ||
| ENST00000485556.5:n.3115G>A (STRC) | ||
| ENST00000541030.5:c.1941G>A (STRC) | ENSP00000440413.1:p.Lys647= | |
| NM_153700.2:c.4260G>A (STRC) MANE Select | NP_714544.1:p.Lys1420= | |
| XM_011521277.1:c.4749G>A (STRC) | XP_011519579.1:p.Lys1583= | |
| XM_011521278.1:c.4365G>A (STRC) | XP_011519580.1:p.Lys1455= | |
| XM_011521279.1:c.4365G>A (STRC) | XP_011519581.1:p.Lys1455= |