Linked Data
ClinVar Variation Id:
1085546
ClinVar RCV Id:
RCV001403001
dbSNP Id:
rs1489139087
gnomAD v3:
13-40807396-C-T
gnomAD v4:
13-40807396-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807396C>T , CM000675.2:g.40807396C>T | GRCh38 |
| NC_000013.10:g.41381532C>T , CM000675.1:g.41381532C>T | GRCh37 |
| NC_000013.9:g.40279532C>T | NCBI36 |
| NG_012248.1:g.22986C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707033.1:c.555C>T (SLC25A15) | ENSP00000516711.1:p.Phe185= | |
| ENST00000338625.9:c.555C>T (SLC25A15) MANE Select | ENSP00000342267.4:p.Phe185= | |
| ENST00000338625.8:c.555C>T (SLC25A15) | ENSP00000342267.4:p.Phe185= | |
| ENST00000470509.1:c.*238C>T (SLC25A15) | ENSP00000431429.1:n.*238C>T | |
| ENST00000478827.1:n.1042C>T (SLC25A15) | ||
| NM_014252.3:c.555C>T (SLC25A15) | NP_055067.1:p.Phe185= | |
| NR_038258.1:n.623-6672G>A (TPTE2P5) | ||
| NR_038259.1:n.452-6672G>A (TPTE2P5) | ||
| NM_014252.4:c.555C>T (SLC25A15) MANE Select | NP_055067.1:p.Phe185= |