Linked Data
ClinVar Variation Id:
38400
ClinVar RCV Id:
RCV000031952
dbSNP Id:
rs202247804
PubMed:
PMID:22649802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807410G>A , CM000675.2:g.40807410G>A | GRCh38 |
| NC_000013.10:g.41381546G>A , CM000675.1:g.41381546G>A | GRCh37 |
| NC_000013.9:g.40279546G>A | NCBI36 |
| NG_012248.1:g.23000G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707033.1:c.569G>A (SLC25A15) | ENSP00000516711.1:p.Gly190Asp | |
| ENST00000338625.9:c.569G>A (SLC25A15) MANE Select | ENSP00000342267.4:p.Gly190Asp | |
| ENST00000338625.8:c.569G>A (SLC25A15) | ENSP00000342267.4:p.Gly190Asp | |
| ENST00000470509.1:c.*252G>A (SLC25A15) | ENSP00000431429.1:n.*252G>A | |
| ENST00000478827.1:n.1056G>A (SLC25A15) | ||
| NM_014252.3:c.569G>A (SLC25A15) | NP_055067.1:p.Gly190Asp | |
| NR_038258.1:n.623-6686C>T (TPTE2P5) | ||
| NR_038259.1:n.452-6686C>T (TPTE2P5) | ||
| NM_014252.4:c.569G>A (SLC25A15) MANE Select | NP_055067.1:p.Gly190Asp |