Linked Data
ClinVar Variation Id:
5999
ClinVar RCV Id:
RCV000006365
dbSNP Id:
rs121908535
ExAC:
13:41383712 C / T
gnomAD v2:
13-41383712-C-T
gnomAD v3:
13-40809576-C-T
gnomAD v4:
13-40809576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40809576C>T , CM000675.2:g.40809576C>T | GRCh38 |
| NC_000013.10:g.41383712C>T , CM000675.1:g.41383712C>T | GRCh37 |
| NC_000013.9:g.40281712C>T | NCBI36 |
| NG_012248.1:g.25166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.815C>T (SLC25A15) | ENSP00000516711.1:p.Thr272Ile | |
| ENST00000338625.9:c.815C>T (SLC25A15) MANE Select | ENSP00000342267.4:p.Thr272Ile | |
| ENST00000338625.8:c.815C>T (SLC25A15) | ENSP00000342267.4:p.Thr272Ile | |
| NM_014252.3:c.815C>T (SLC25A15) | NP_055067.1:p.Thr272Ile | |
| NR_038258.1:n.623-8852G>A (TPTE2P5) | ||
| NR_038259.1:n.452-8852G>A (TPTE2P5) | ||
| NM_014252.4:c.815C>T (SLC25A15) MANE Select | NP_055067.1:p.Thr272Ile |