Linked Data
dbSNP Id:
rs530174282
ExAC:
15:43893724 C / T
gnomAD v2:
15-43893724-C-T
gnomAD v3:
15-43601526-C-T
gnomAD v4:
15-43601526-C-T
COSMIC:
COSM5012874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601526C>T , CM000677.2:g.43601526C>T | GRCh38 |
| NC_000015.9:g.43893724C>T , CM000677.1:g.43893724C>T | GRCh37 |
| NC_000015.8:g.41681016C>T | NCBI36 |
| NG_011636.1:g.22275G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4571G>A (STRC) MANE Select | ENSP00000401513.2:p.Arg1524His | |
| ENST00000411560.1:n.142+1993C>T (CKMT1B) | ||
| ENST00000428650.5:c.*1604G>A (STRC) | ENSP00000415991.1:n.*1604G>A | |
| ENST00000440125.5:c.*2363G>A (STRC) | ENSP00000394866.1:n.*2363G>A | |
| ENST00000448437.6:n.1691G>A (STRC) | ||
| ENST00000450892.6:c.4571G>A (STRC) | ENSP00000401513.2:p.Arg1524His | |
| ENST00000460952.1:n.150G>A (STRC) | ||
| ENST00000471703.5:n.2525G>A (STRC) | ||
| ENST00000485556.5:n.3426G>A (STRC) | ||
| ENST00000493750.1:n.367G>A (STRC) | ||
| ENST00000541030.5:c.2252G>A (STRC) | ENSP00000440413.1:p.Arg751His | |
| NM_153700.2:c.4571G>A (STRC) MANE Select | NP_714544.1:p.Arg1524His | |
| XM_011521277.1:c.5060G>A (STRC) | XP_011519579.1:p.Arg1687His | |
| XM_011521278.1:c.4676G>A (STRC) | XP_011519580.1:p.Arg1559His | |
| XM_011521279.1:c.4676G>A (STRC) | XP_011519581.1:p.Arg1559His |