Linked Data
dbSNP Id:
rs1322782507
gnomAD v2:
15-43891976-T-C
gnomAD v3:
15-43599778-T-C
gnomAD v4:
15-43599778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43599778T>C , CM000677.2:g.43599778T>C | GRCh38 |
| NC_000015.9:g.43891976T>C , CM000677.1:g.43891976T>C | GRCh37 |
| NC_000015.8:g.41679268T>C | NCBI36 |
| NG_011636.1:g.24023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.5240-18A>G (STRC) MANE Select | ENSP00000401513.2:n.5240-18A>G | |
| ENST00000411560.1:n.142+245T>C (CKMT1B) | ||
| ENST00000428650.5:c.*2273-18A>G (STRC) | ENSP00000415991.1:n.*2273-18A>G | |
| ENST00000440125.5:c.*3032-18A>G (STRC) | ENSP00000394866.1:n.*3032-18A>G | |
| ENST00000448437.6:n.2360-18A>G (STRC) | ||
| ENST00000450892.6:c.5240-18A>G (STRC) | ENSP00000401513.2:n.5240-18A>G | |
| ENST00000471703.5:n.3194-18A>G (STRC) | ||
| ENST00000485556.5:n.4095-18A>G (STRC) | ||
| ENST00000541030.5:c.2921-18A>G (STRC) | ENSP00000440413.1:n.2921-18A>G | |
| NM_153700.2:c.5240-18A>G (STRC) MANE Select | NP_714544.1:n.5240-18A>G | |
| XM_011521277.1:c.5729-18A>G (STRC) | XP_011519579.1:n.5729-18A>G | |
| XM_011521278.1:c.5345-18A>G (STRC) | XP_011519580.1:n.5345-18A>G | |
| XM_011521279.1:c.5345-18A>G (STRC) | XP_011519581.1:n.5345-18A>G |