Linked Data
dbSNP Id:
rs981010777
gnomAD v2:
15-43893794-G-A
gnomAD v3:
15-43601596-G-A
gnomAD v4:
15-43601596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601596G>A , CM000677.2:g.43601596G>A | GRCh38 |
| NC_000015.9:g.43893794G>A , CM000677.1:g.43893794G>A | GRCh37 |
| NC_000015.8:g.41681086G>A | NCBI36 |
| NG_011636.1:g.22205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4546-45C>T (STRC) MANE Select | ENSP00000401513.2:n.4546-45C>T | |
| ENST00000411560.1:n.142+2063G>A (CKMT1B) | ||
| ENST00000428650.5:c.*1579-45C>T (STRC) | ENSP00000415991.1:n.*1579-45C>T | |
| ENST00000440125.5:c.*2338-45C>T (STRC) | ENSP00000394866.1:n.*2338-45C>T | |
| ENST00000448437.6:n.1666-45C>T (STRC) | ||
| ENST00000450892.6:c.4546-45C>T (STRC) | ENSP00000401513.2:n.4546-45C>T | |
| ENST00000460952.1:n.80C>T (STRC) | ||
| ENST00000471703.5:n.2500-45C>T (STRC) | ||
| ENST00000485556.5:n.3401-45C>T (STRC) | ||
| ENST00000493750.1:n.342-45C>T (STRC) | ||
| ENST00000541030.5:c.2227-45C>T (STRC) | ENSP00000440413.1:n.2227-45C>T | |
| NM_153700.2:c.4546-45C>T (STRC) MANE Select | NP_714544.1:n.4546-45C>T | |
| XM_011521277.1:c.5035-45C>T (STRC) | XP_011519579.1:n.5035-45C>T | |
| XM_011521278.1:c.4651-45C>T (STRC) | XP_011519580.1:n.4651-45C>T | |
| XM_011521279.1:c.4651-45C>T (STRC) | XP_011519581.1:n.4651-45C>T |