Linked Data
ClinVar Variation Id:
2482807
ClinVar RCV Id:
RCV003211672
dbSNP Id:
rs200117115
gnomAD v4:
13-40807299-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807299T>C , CM000675.2:g.40807299T>C | GRCh38 |
| NC_000013.10:g.41381435T>C , CM000675.1:g.41381435T>C | GRCh37 |
| NC_000013.9:g.40279435T>C | NCBI36 |
| NG_012248.1:g.22889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.458T>C (SLC25A15) | ENSP00000516711.1:p.Val153Ala | |
| ENST00000338625.9:c.458T>C (SLC25A15) MANE Select | ENSP00000342267.4:p.Val153Ala | |
| ENST00000338625.8:c.458T>C (SLC25A15) | ENSP00000342267.4:p.Val153Ala | |
| ENST00000417731.5:c.320T>C (SLC25A15) | ENSP00000415826.1:p.Val107Ala | |
| ENST00000470509.1:c.*141T>C (SLC25A15) | ENSP00000431429.1:n.*141T>C | |
| ENST00000478827.1:n.945T>C (SLC25A15) | ||
| NM_014252.3:c.458T>C (SLC25A15) | NP_055067.1:p.Val153Ala | |
| NR_038258.1:n.623-6575A>G (TPTE2P5) | ||
| NR_038259.1:n.452-6575A>G (TPTE2P5) | ||
| NM_014252.4:c.458T>C (SLC25A15) MANE Select | NP_055067.1:p.Val153Ala |