Linked Data
ClinVar Variation Id:
2913399
ClinVar RCV Id:
RCV003644844
MyVariant Identifiers:
chr7:g.30058660T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30019044T>C , CM000669.2:g.30019044T>C | GRCh38 |
| NC_000007.13:g.30058660T>C , CM000669.1:g.30058660T>C | GRCh37 |
| NC_000007.12:g.30025185T>C | NCBI36 |
| NG_032173.1:g.12758A>G , LRG_454:g.12758A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222803.10:c.429A>G (FKBP14) MANE Select | ENSP00000222803.5:p.Ser143= | |
| ENST00000222803.9:c.429A>G (FKBP14) | ENSP00000222803.5:p.Ser143= | |
| ENST00000412494.1:c.432A>G (FKBP14) | ||
| ENST00000419018.1:c.*76A>G (FKBP14) | ENSP00000406270.1:n.*76A>G | |
| NM_017946.3:c.429A>G , LRG_454t1:c.429A>G (FKBP14) | NP_060416.1:p.Ser143= | |
| NR_046478.1:n.814A>G (FKBP14) | ||
| NR_046479.1:n.570A>G (FKBP14) | ||
| XR_927144.1:n.1570-6343T>C (FKBP14-AS1) | ||
| XR_927145.1:n.1139-6343T>C (FKBP14-AS1) | ||
| XR_927145.3:n.345-6343T>C (FKBP14-AS1) | ||
| NM_017946.4:c.429A>G (FKBP14) MANE Select | NP_060416.1:p.Ser143= | |
| NR_046478.2:n.715A>G (FKBP14) | ||
| NR_046479.2:n.471A>G (FKBP14) |