Linked Data
dbSNP Id:
rs576724498
ExAC:
15:43893571 G / A
gnomAD v2:
15-43893571-G-A
gnomAD v3:
15-43601373-G-A
gnomAD v4:
15-43601373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601373G>A , CM000677.2:g.43601373G>A | GRCh38 |
| NC_000015.9:g.43893571G>A , CM000677.1:g.43893571G>A | GRCh37 |
| NC_000015.8:g.41680863G>A | NCBI36 |
| NG_011636.1:g.22428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4701+23C>T (STRC) MANE Select | ENSP00000401513.2:n.4701+23C>T | |
| ENST00000411560.1:n.142+1840G>A (CKMT1B) | ||
| ENST00000428650.5:c.*1734+23C>T (STRC) | ENSP00000415991.1:n.*1734+23C>T | |
| ENST00000440125.5:c.*2493+23C>T (STRC) | ENSP00000394866.1:n.*2493+23C>T | |
| ENST00000448437.6:n.1821+23C>T (STRC) | ||
| ENST00000450892.6:c.4701+23C>T (STRC) | ENSP00000401513.2:n.4701+23C>T | |
| ENST00000460952.1:n.280+23C>T (STRC) | ||
| ENST00000471703.5:n.2655+23C>T (STRC) | ||
| ENST00000485556.5:n.3556+23C>T (STRC) | ||
| ENST00000493750.1:n.497+23C>T (STRC) | ||
| ENST00000541030.5:c.2382+23C>T (STRC) | ENSP00000440413.1:n.2382+23C>T | |
| NM_153700.2:c.4701+23C>T (STRC) MANE Select | NP_714544.1:n.4701+23C>T | |
| XM_011521277.1:c.5190+23C>T (STRC) | XP_011519579.1:n.5190+23C>T | |
| XM_011521278.1:c.4806+23C>T (STRC) | XP_011519580.1:n.4806+23C>T | |
| XM_011521279.1:c.4806+23C>T (STRC) | XP_011519581.1:n.4806+23C>T |