Linked Data
ClinVar Variation Id:
2148907
gnomAD v4:
7-30019080-G-T
MyVariant Identifiers:
chr7:g.30058696G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30019080G>T , CM000669.2:g.30019080G>T | GRCh38 |
| NC_000007.13:g.30058696G>T , CM000669.1:g.30058696G>T | GRCh37 |
| NC_000007.12:g.30025221G>T | NCBI36 |
| NG_032173.1:g.12722C>A , LRG_454:g.12722C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222803.10:c.393C>A (FKBP14) MANE Select | ENSP00000222803.5:p.Leu131= | |
| ENST00000222803.9:c.393C>A (FKBP14) | ENSP00000222803.5:p.Leu131= | |
| ENST00000412494.1:c.396C>A (FKBP14) | ||
| ENST00000419018.1:c.*40C>A (FKBP14) | ENSP00000406270.1:n.*40C>A | |
| NM_017946.3:c.393C>A , LRG_454t1:c.393C>A (FKBP14) | NP_060416.1:p.Leu131= | |
| NR_046478.1:n.778C>A (FKBP14) | ||
| NR_046479.1:n.534C>A (FKBP14) | ||
| XR_927144.1:n.1570-6307G>T (FKBP14-AS1) | ||
| XR_927145.1:n.1139-6307G>T (FKBP14-AS1) | ||
| XR_927145.3:n.345-6307G>T (FKBP14-AS1) | ||
| NM_017946.4:c.393C>A (FKBP14) MANE Select | NP_060416.1:p.Leu131= | |
| NR_046478.2:n.679C>A (FKBP14) | ||
| NR_046479.2:n.435C>A (FKBP14) |