Linked Data
dbSNP Id:
rs748432576
ExAC:
15:43893703 A / G
gnomAD v2:
15-43893703-A-G
gnomAD v4:
15-43601505-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601505A>G , CM000677.2:g.43601505A>G | GRCh38 |
| NC_000015.9:g.43893703A>G , CM000677.1:g.43893703A>G | GRCh37 |
| NC_000015.8:g.41680995A>G | NCBI36 |
| NG_011636.1:g.22296T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4592T>C (STRC) MANE Select | ENSP00000401513.2:p.Leu1531Pro | |
| ENST00000411560.1:n.142+1972A>G (CKMT1B) | ||
| ENST00000428650.5:c.*1625T>C (STRC) | ENSP00000415991.1:n.*1625T>C | |
| ENST00000440125.5:c.*2384T>C (STRC) | ENSP00000394866.1:n.*2384T>C | |
| ENST00000448437.6:n.1712T>C (STRC) | ||
| ENST00000450892.6:c.4592T>C (STRC) | ENSP00000401513.2:p.Leu1531Pro | |
| ENST00000460952.1:n.171T>C (STRC) | ||
| ENST00000471703.5:n.2546T>C (STRC) | ||
| ENST00000485556.5:n.3447T>C (STRC) | ||
| ENST00000493750.1:n.388T>C (STRC) | ||
| ENST00000541030.5:c.2273T>C (STRC) | ENSP00000440413.1:p.Leu758Pro | |
| NM_153700.2:c.4592T>C (STRC) MANE Select | NP_714544.1:p.Leu1531Pro | |
| XM_011521277.1:c.5081T>C (STRC) | XP_011519579.1:p.Leu1694Pro | |
| XM_011521278.1:c.4697T>C (STRC) | XP_011519580.1:p.Leu1566Pro | |
| XM_011521279.1:c.4697T>C (STRC) | XP_011519581.1:p.Leu1566Pro |