Linked Data
ClinVar Variation Id:
312179
ClinVar RCV Id:
RCV000371389
dbSNP Id:
rs35434090
ExAC:
13:41379284 C / T
gnomAD v2:
13-41379284-C-T
gnomAD v3:
13-40805148-C-T
gnomAD v4:
13-40805148-C-T
COSMIC:
COSM3885336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40805148C>T , CM000675.2:g.40805148C>T | GRCh38 |
| NC_000013.10:g.41379284C>T , CM000675.1:g.41379284C>T | GRCh37 |
| NC_000013.9:g.40277284C>T | NCBI36 |
| NG_012248.1:g.20738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.345C>T (SLC25A15) | ENSP00000516711.1:p.Phe115= | |
| ENST00000338625.9:c.345C>T (SLC25A15) MANE Select | ENSP00000342267.4:p.Phe115= | |
| ENST00000338625.8:c.345C>T (SLC25A15) | ENSP00000342267.4:p.Phe115= | |
| ENST00000417731.5:c.315-2146C>T (SLC25A15) | ENSP00000415826.1:n.315-2146C>T | |
| ENST00000470509.1:c.*28C>T (SLC25A15) | ENSP00000431429.1:n.*28C>T | |
| ENST00000478827.1:n.832C>T (SLC25A15) | ||
| NM_014252.3:c.345C>T (SLC25A15) | NP_055067.1:p.Phe115= | |
| NR_038258.1:n.623-4424G>A (TPTE2P5) | ||
| NR_038259.1:n.452-4424G>A (TPTE2P5) | ||
| NM_014252.4:c.345C>T (SLC25A15) MANE Select | NP_055067.1:p.Phe115= |