Linked Data
ClinVar Variation Id:
312180
ClinVar RCV Id:
RCV000269816
dbSNP Id:
rs374352017
ExAC:
13:41381529 T / C
gnomAD v2:
13-41381529-T-C
MyVariant Identifiers:
chr13:g.41381529T>C (hg19)
chr13:g.41381529_41381532delinsCTTC (hg19)
chr13:g.40807393T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807393T>C , CM000675.2:g.40807393T>C | GRCh38 |
| NC_000013.10:g.41381529T>C , CM000675.1:g.41381529T>C | GRCh37 |
| NC_000013.9:g.40279529T>C | NCBI36 |
| NG_012248.1:g.22983T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707033.1:c.552T>C (SLC25A15) | ENSP00000516711.1:p.Tyr184= | |
| ENST00000338625.9:c.552T>C (SLC25A15) MANE Select | ENSP00000342267.4:p.Tyr184= | |
| ENST00000338625.8:c.552T>C (SLC25A15) | ENSP00000342267.4:p.Tyr184= | |
| ENST00000470509.1:c.*235T>C (SLC25A15) | ENSP00000431429.1:n.*235T>C | |
| ENST00000478827.1:n.1039T>C (SLC25A15) | ||
| NM_014252.3:c.552T>C (SLC25A15) | NP_055067.1:p.Tyr184= | |
| NR_038258.1:n.623-6669A>G (TPTE2P5) | ||
| NR_038259.1:n.452-6669A>G (TPTE2P5) | ||
| NM_014252.4:c.552T>C (SLC25A15) MANE Select | NP_055067.1:p.Tyr184= |