Linked Data
ClinVar Variation Id:
930094
ClinVar RCV Id:
RCV001195518
dbSNP Id:
rs1246240978
gnomAD v4:
15-43601538-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601538G>T , CM000677.2:g.43601538G>T | GRCh38 |
| NC_000015.9:g.43893736G>T , CM000677.1:g.43893736G>T | GRCh37 |
| NC_000015.8:g.41681028G>T | NCBI36 |
| NG_011636.1:g.22263C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4559C>A (STRC) MANE Select | ENSP00000401513.2:p.Pro1520His | |
| ENST00000411560.1:n.142+2005G>T (CKMT1B) | ||
| ENST00000428650.5:c.*1592C>A (STRC) | ENSP00000415991.1:n.*1592C>A | |
| ENST00000440125.5:c.*2351C>A (STRC) | ENSP00000394866.1:n.*2351C>A | |
| ENST00000448437.6:n.1679C>A (STRC) | ||
| ENST00000450892.6:c.4559C>A (STRC) | ENSP00000401513.2:p.Pro1520His | |
| ENST00000460952.1:n.138C>A (STRC) | ||
| ENST00000471703.5:n.2513C>A (STRC) | ||
| ENST00000485556.5:n.3414C>A (STRC) | ||
| ENST00000493750.1:n.355C>A (STRC) | ||
| ENST00000541030.5:c.2240C>A (STRC) | ENSP00000440413.1:p.Pro747His | |
| NM_153700.2:c.4559C>A (STRC) MANE Select | NP_714544.1:p.Pro1520His | |
| XM_011521277.1:c.5048C>A (STRC) | XP_011519579.1:p.Pro1683His | |
| XM_011521278.1:c.4664C>A (STRC) | XP_011519580.1:p.Pro1555His | |
| XM_011521279.1:c.4664C>A (STRC) | XP_011519581.1:p.Pro1555His |