Linked Data
dbSNP Id:
rs200698944
ExAC:
15:43893598 G / A
gnomAD v2:
15-43893598-G-A
gnomAD v3:
15-43601400-G-A
gnomAD v4:
15-43601400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601400G>A , CM000677.2:g.43601400G>A | GRCh38 |
| NC_000015.9:g.43893598G>A , CM000677.1:g.43893598G>A | GRCh37 |
| NC_000015.8:g.41680890G>A | NCBI36 |
| NG_011636.1:g.22401C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4697C>T (STRC) MANE Select | ENSP00000401513.2:p.Thr1566Ile | |
| ENST00000411560.1:n.142+1867G>A (CKMT1B) | ||
| ENST00000428650.5:c.*1730C>T (STRC) | ENSP00000415991.1:n.*1730C>T | |
| ENST00000440125.5:c.*2489C>T (STRC) | ENSP00000394866.1:n.*2489C>T | |
| ENST00000448437.6:n.1817C>T (STRC) | ||
| ENST00000450892.6:c.4697C>T (STRC) | ENSP00000401513.2:p.Thr1566Ile | |
| ENST00000460952.1:n.276C>T (STRC) | ||
| ENST00000471703.5:n.2651C>T (STRC) | ||
| ENST00000485556.5:n.3552C>T (STRC) | ||
| ENST00000493750.1:n.493C>T (STRC) | ||
| ENST00000541030.5:c.2378C>T (STRC) | ENSP00000440413.1:p.Thr793Ile | |
| NM_153700.2:c.4697C>T (STRC) MANE Select | NP_714544.1:p.Thr1566Ile | |
| XM_011521277.1:c.5186C>T (STRC) | XP_011519579.1:p.Thr1729Ile | |
| XM_011521278.1:c.4802C>T (STRC) | XP_011519580.1:p.Thr1601Ile | |
| XM_011521279.1:c.4802C>T (STRC) | XP_011519581.1:p.Thr1601Ile |