Linked Data
ClinVar Variation Id:
38401
ClinVar RCV Id:
RCV000031953
dbSNP Id:
rs202247805
gnomAD v4:
13-40808473-G-A
PubMed:
PMID:22649802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40808473G>A , CM000675.2:g.40808473G>A | GRCh38 |
| NC_000013.10:g.41382609G>A , CM000675.1:g.41382609G>A | GRCh37 |
| NC_000013.9:g.40280609G>A | NCBI36 |
| NG_012248.1:g.24063G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.658G>A (SLC25A15) | ENSP00000516711.1:p.Gly220Arg | |
| ENST00000338625.9:c.658G>A (SLC25A15) MANE Select | ENSP00000342267.4:p.Gly220Arg | |
| ENST00000338625.8:c.658G>A (SLC25A15) | ENSP00000342267.4:p.Gly220Arg | |
| NM_014252.3:c.658G>A (SLC25A15) | NP_055067.1:p.Gly220Arg | |
| NR_038258.1:n.623-7749C>T (TPTE2P5) | ||
| NR_038259.1:n.452-7749C>T (TPTE2P5) | ||
| NM_014252.4:c.658G>A (SLC25A15) MANE Select | NP_055067.1:p.Gly220Arg |