Linked Data
dbSNP Id:
rs750246174
ExAC:
15:43893740 G / T
gnomAD v2:
15-43893740-G-T
gnomAD v4:
15-43601542-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601542G>T , CM000677.2:g.43601542G>T | GRCh38 |
| NC_000015.9:g.43893740G>T , CM000677.1:g.43893740G>T | GRCh37 |
| NC_000015.8:g.41681032G>T | NCBI36 |
| NG_011636.1:g.22259C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4555C>A (STRC) MANE Select | ENSP00000401513.2:p.Pro1519Thr | |
| ENST00000411560.1:n.142+2009G>T (CKMT1B) | ||
| ENST00000428650.5:c.*1588C>A (STRC) | ENSP00000415991.1:n.*1588C>A | |
| ENST00000440125.5:c.*2347C>A (STRC) | ENSP00000394866.1:n.*2347C>A | |
| ENST00000448437.6:n.1675C>A (STRC) | ||
| ENST00000450892.6:c.4555C>A (STRC) | ENSP00000401513.2:p.Pro1519Thr | |
| ENST00000460952.1:n.134C>A (STRC) | ||
| ENST00000471703.5:n.2509C>A (STRC) | ||
| ENST00000485556.5:n.3410C>A (STRC) | ||
| ENST00000493750.1:n.351C>A (STRC) | ||
| ENST00000541030.5:c.2236C>A (STRC) | ENSP00000440413.1:p.Pro746Thr | |
| NM_153700.2:c.4555C>A (STRC) MANE Select | NP_714544.1:p.Pro1519Thr | |
| XM_011521277.1:c.5044C>A (STRC) | XP_011519579.1:p.Pro1682Thr | |
| XM_011521278.1:c.4660C>A (STRC) | XP_011519580.1:p.Pro1554Thr | |
| XM_011521279.1:c.4660C>A (STRC) | XP_011519581.1:p.Pro1554Thr |