Linked Data
ClinVar Variation Id:
38399
ClinVar RCV Id:
RCV000031951
dbSNP Id:
rs141028076
ExAC:
13:41381541 C / G
gnomAD v2:
13-41381541-C-G
gnomAD v4:
13-40807405-C-G
PubMed:
PMID:22649802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807405C>G , CM000675.2:g.40807405C>G | GRCh38 |
| NC_000013.10:g.41381541C>G , CM000675.1:g.41381541C>G | GRCh37 |
| NC_000013.9:g.40279541C>G | NCBI36 |
| NG_012248.1:g.22995C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707033.1:c.564C>G (SLC25A15) | ENSP00000516711.1:p.Phe188Leu | |
| ENST00000338625.9:c.564C>G (SLC25A15) MANE Select | ENSP00000342267.4:p.Phe188Leu | |
| ENST00000338625.8:c.564C>G (SLC25A15) | ENSP00000342267.4:p.Phe188Leu | |
| ENST00000470509.1:c.*247C>G (SLC25A15) | ENSP00000431429.1:n.*247C>G | |
| ENST00000478827.1:n.1051C>G (SLC25A15) | ||
| NM_014252.3:c.564C>G (SLC25A15) | NP_055067.1:p.Phe188Leu | |
| NR_038258.1:n.623-6681G>C (TPTE2P5) | ||
| NR_038259.1:n.452-6681G>C (TPTE2P5) | ||
| NM_014252.4:c.564C>G (SLC25A15) MANE Select | NP_055067.1:p.Phe188Leu |