Linked Data
dbSNP Id:
rs376627636
ExAC:
15:43893582 G / T
gnomAD v2:
15-43893582-G-T
gnomAD v3:
15-43601384-G-T
gnomAD v4:
15-43601384-G-T
MyVariant Identifiers:
chr15:g.43893582G>T (hg19)
chr15:g.43893582_43893583delinsTA (hg19)
chr15:g.43601384G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601384G>T , CM000677.2:g.43601384G>T | GRCh38 |
| NC_000015.9:g.43893582G>T , CM000677.1:g.43893582G>T | GRCh37 |
| NC_000015.8:g.41680874G>T | NCBI36 |
| NG_011636.1:g.22417C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4701+12C>A (STRC) MANE Select | ENSP00000401513.2:n.4701+12C>A | |
| ENST00000411560.1:n.142+1851G>T (CKMT1B) | ||
| ENST00000428650.5:c.*1734+12C>A (STRC) | ENSP00000415991.1:n.*1734+12C>A | |
| ENST00000440125.5:c.*2493+12C>A (STRC) | ENSP00000394866.1:n.*2493+12C>A | |
| ENST00000448437.6:n.1821+12C>A (STRC) | ||
| ENST00000450892.6:c.4701+12C>A (STRC) | ENSP00000401513.2:n.4701+12C>A | |
| ENST00000460952.1:n.280+12C>A (STRC) | ||
| ENST00000471703.5:n.2655+12C>A (STRC) | ||
| ENST00000485556.5:n.3556+12C>A (STRC) | ||
| ENST00000493750.1:n.497+12C>A (STRC) | ||
| ENST00000541030.5:c.2382+12C>A (STRC) | ENSP00000440413.1:n.2382+12C>A | |
| NM_153700.2:c.4701+12C>A (STRC) MANE Select | NP_714544.1:n.4701+12C>A | |
| XM_011521277.1:c.5190+12C>A (STRC) | XP_011519579.1:n.5190+12C>A | |
| XM_011521278.1:c.4806+12C>A (STRC) | XP_011519580.1:n.4806+12C>A | |
| XM_011521279.1:c.4806+12C>A (STRC) | XP_011519581.1:n.4806+12C>A |