Linked Data
ClinVar Variation Id:
38397
ClinVar RCV Id:
RCV001235689
dbSNP Id:
rs199894905
gnomAD v3:
13-40805140-G-T
gnomAD v4:
13-40805140-G-T
PubMed:
PMID:22649802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40805140G>T , CM000675.2:g.40805140G>T | GRCh38 |
| NC_000013.10:g.41379276G>T , CM000675.1:g.41379276G>T | GRCh37 |
| NC_000013.9:g.40277276G>T | NCBI36 |
| NG_012248.1:g.20730G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.337G>T (SLC25A15) | ENSP00000516711.1:p.Gly113Cys | |
| ENST00000338625.9:c.337G>T (SLC25A15) MANE Select | ENSP00000342267.4:p.Gly113Cys | |
| ENST00000338625.8:c.337G>T (SLC25A15) | ENSP00000342267.4:p.Gly113Cys | |
| ENST00000417731.5:c.315-2154G>T (SLC25A15) | ENSP00000415826.1:n.315-2154G>T | |
| ENST00000470509.1:c.*20G>T (SLC25A15) | ENSP00000431429.1:n.*20G>T | |
| ENST00000478827.1:n.824G>T (SLC25A15) | ||
| NM_014252.3:c.337G>T (SLC25A15) | NP_055067.1:p.Gly113Cys | |
| NR_038258.1:n.623-4416C>A (TPTE2P5) | ||
| NR_038259.1:n.452-4416C>A (TPTE2P5) | ||
| NM_014252.4:c.337G>T (SLC25A15) MANE Select | NP_055067.1:p.Gly113Cys |