Linked Data
dbSNP Id:
rs369758133
gnomAD v2:
15-80743910-C-A
gnomAD v3:
15-80451569-C-A
gnomAD v4:
15-80451569-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80451569C>A , CM000677.2:g.80451569C>A | GRCh38 |
| NC_000015.9:g.80743910C>A , CM000677.1:g.80743910C>A | GRCh37 |
| NC_000015.8:g.78530965C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.146+575C>A MANE Select | ENSP00000307479.4:n.146+575C>A | |
| ENST00000303329.8:c.146+575C>A | ENSP00000307479.4:n.146+575C>A | |
| ENST00000525103.1:c.-57+10191C>A | ENSP00000452961.1:n.-57+10191C>A | |
| ENST00000527771.5:c.113+575C>A | ENSP00000453792.1:n.113+575C>A | |
| ENST00000529181.1:n.312+575C>A | ||
| ENST00000533983.5:c.113+575C>A | ENSP00000453651.1:n.113+575C>A | |
| ENST00000610490.4:c.146+575C>A | ENSP00000483762.1:n.146+575C>A | |
| ENST00000622346.4:c.146+575C>A | ENSP00000479393.1:n.146+575C>A | |
| NM_014862.3:c.146+575C>A | NP_055677.3:n.146+575C>A | |
| NM_014862.4:c.146+575C>A MANE Select | NP_055677.3:n.146+575C>A |