Linked Data
ClinVar Variation Id:
5994
dbSNP Id:
rs104894429
ExAC:
13:41381512 C / T
gnomAD v2:
13-41381512-C-T
gnomAD v3:
13-40807376-C-T
gnomAD v4:
13-40807376-C-T
COSMIC:
COSM176995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807376C>T , CM000675.2:g.40807376C>T | GRCh38 |
| NC_000013.10:g.41381512C>T , CM000675.1:g.41381512C>T | GRCh37 |
| NC_000013.9:g.40279512C>T | NCBI36 |
| NG_012248.1:g.22966C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.535C>T (SLC25A15) | ENSP00000516711.1:p.Arg179Ter | |
| ENST00000338625.9:c.535C>T (SLC25A15) MANE Select | ENSP00000342267.4:p.Arg179Ter | |
| ENST00000338625.8:c.535C>T (SLC25A15) | ENSP00000342267.4:p.Arg179Ter | |
| ENST00000417731.5:c.397C>T (SLC25A15) | ENSP00000415826.1:p.Arg133Ter | |
| ENST00000470509.1:c.*218C>T (SLC25A15) | ENSP00000431429.1:n.*218C>T | |
| ENST00000478827.1:n.1022C>T (SLC25A15) | ||
| NM_014252.3:c.535C>T (SLC25A15) | NP_055067.1:p.Arg179Ter | |
| NR_038258.1:n.623-6652G>A (TPTE2P5) | ||
| NR_038259.1:n.452-6652G>A (TPTE2P5) | ||
| NM_014252.4:c.535C>T (SLC25A15) MANE Select | NP_055067.1:p.Arg179Ter |