Linked Data
ClinVar Variation Id:
38402
dbSNP Id:
rs202247808
gnomAD v4:
13-40809579-T-A
COSMIC:
COSM4726794
PubMed:
PMID:22649802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40809579T>A , CM000675.2:g.40809579T>A | GRCh38 |
| NC_000013.10:g.41383715T>A , CM000675.1:g.41383715T>A | GRCh37 |
| NC_000013.9:g.40281715T>A | NCBI36 |
| NG_012248.1:g.25169T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707033.1:c.818T>A (SLC25A15) | ENSP00000516711.1:p.Met273Lys | |
| ENST00000338625.9:c.818T>A (SLC25A15) MANE Select | ENSP00000342267.4:p.Met273Lys | |
| ENST00000338625.8:c.818T>A (SLC25A15) | ENSP00000342267.4:p.Met273Lys | |
| NM_014252.3:c.818T>A (SLC25A15) | NP_055067.1:p.Met273Lys | |
| NR_038258.1:n.623-8855A>T (TPTE2P5) | ||
| NR_038259.1:n.452-8855A>T (TPTE2P5) | ||
| NM_014252.4:c.818T>A (SLC25A15) MANE Select | NP_055067.1:p.Met273Lys |