Linked Data
ClinVar Variation Id:
517438
ClinVar RCV Id:
RCV000605571
dbSNP Id:
rs144622511
gnomAD v4:
15-43603372-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43603372G>T , CM000677.2:g.43603372G>T | GRCh38 |
| NC_000015.9:g.43895570G>T , CM000677.1:g.43895570G>T | GRCh37 |
| NC_000015.8:g.41682862G>T | NCBI36 |
| NG_011636.1:g.20429C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4415C>A (STRC) MANE Select | ENSP00000401513.2:p.Pro1472Gln | |
| ENST00000411560.1:n.143-1412G>T (CKMT1B) | ||
| ENST00000428650.5:c.*1578+624C>A (STRC) | ENSP00000415991.1:n.*1578+624C>A | |
| ENST00000440125.5:c.*2207C>A (STRC) | ENSP00000394866.1:n.*2207C>A | |
| ENST00000448437.6:n.1666-1821C>A (STRC) | ||
| ENST00000450892.6:c.4415C>A (STRC) | ENSP00000401513.2:p.Pro1472Gln | |
| ENST00000471703.5:n.2369C>A (STRC) | ||
| ENST00000485556.5:n.3270C>A (STRC) | ||
| ENST00000493750.1:n.211C>A (STRC) | ||
| ENST00000541030.5:c.2096C>A (STRC) | ENSP00000440413.1:p.Pro699Gln | |
| NM_153700.2:c.4415C>A (STRC) MANE Select | NP_714544.1:p.Pro1472Gln | |
| XM_011521277.1:c.4904C>A (STRC) | XP_011519579.1:p.Pro1635Gln | |
| XM_011521278.1:c.4520C>A (STRC) | XP_011519580.1:p.Pro1507Gln | |
| XM_011521279.1:c.4520C>A (STRC) | XP_011519581.1:p.Pro1507Gln |