Linked Data
dbSNP Id:
rs12435391
ExAC:
14:75601737 A / T
gnomAD v2:
14-75601737-A-T
gnomAD v4:
14-75135034-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75135034A>T , CM000676.2:g.75135034A>T | GRCh38 |
| NC_000014.8:g.75601737A>T , CM000676.1:g.75601737A>T | GRCh37 |
| NC_000014.7:g.74671490A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303575.9:c.539-28T>A MANE Select | ENSP00000303145.4:n.539-28T>A | |
| ENST00000303575.8:c.539-28T>A | ENSP00000303145.4:n.539-28T>A | |
| ENST00000555036.1:n.322-28T>A | ||
| ENST00000555873.1:c.*175-28T>A | ENSP00000450726.1:n.*175-28T>A | |
| ENST00000556969.5:n.246-28T>A | ||
| ENST00000557670.5:n.267-28T>A | ||
| NM_006827.5:c.539-28T>A | NP_006818.3:n.539-28T>A | |
| NM_006827.6:c.539-28T>A MANE Select | NP_006818.3:n.539-28T>A |