Linked Data
dbSNP Id:
rs1242145943
gnomAD v2:
15-43893806-G-C
gnomAD v3:
15-43601608-G-C
gnomAD v4:
15-43601608-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601608G>C , CM000677.2:g.43601608G>C | GRCh38 |
| NC_000015.9:g.43893806G>C , CM000677.1:g.43893806G>C | GRCh37 |
| NC_000015.8:g.41681098G>C | NCBI36 |
| NG_011636.1:g.22193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4546-57C>G (STRC) MANE Select | ENSP00000401513.2:n.4546-57C>G | |
| ENST00000411560.1:n.142+2075G>C (CKMT1B) | ||
| ENST00000428650.5:c.*1579-57C>G (STRC) | ENSP00000415991.1:n.*1579-57C>G | |
| ENST00000440125.5:c.*2338-57C>G (STRC) | ENSP00000394866.1:n.*2338-57C>G | |
| ENST00000448437.6:n.1666-57C>G (STRC) | ||
| ENST00000450892.6:c.4546-57C>G (STRC) | ENSP00000401513.2:n.4546-57C>G | |
| ENST00000460952.1:n.68C>G (STRC) | ||
| ENST00000471703.5:n.2500-57C>G (STRC) | ||
| ENST00000485556.5:n.3401-57C>G (STRC) | ||
| ENST00000493750.1:n.342-57C>G (STRC) | ||
| ENST00000541030.5:c.2227-57C>G (STRC) | ENSP00000440413.1:n.2227-57C>G | |
| NM_153700.2:c.4546-57C>G (STRC) MANE Select | NP_714544.1:n.4546-57C>G | |
| XM_011521277.1:c.5035-57C>G (STRC) | XP_011519579.1:n.5035-57C>G | |
| XM_011521278.1:c.4651-57C>G (STRC) | XP_011519580.1:n.4651-57C>G | |
| XM_011521279.1:c.4651-57C>G (STRC) | XP_011519581.1:n.4651-57C>G |