| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40808598T>A , CM000675.2:g.40808598T>A | GRCh38 |
| NC_000013.10:g.41382734T>A , CM000675.1:g.41382734T>A | GRCh37 |
| NC_000013.9:g.40280734T>A | NCBI36 |
| NG_012248.1:g.24188T>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_014252.4:c.781+2T>A (SLC25A15) MANE Select | NP_055067.1:n.781+2T>A |
| ENST00000338625.9:c.781+2T>A (SLC25A15) MANE Select | ENSP00000342267.4:n.781+2T>A |
| NM_014252.3:c.781+2T>A (SLC25A15) | NP_055067.1:n.781+2T>A |
| NR_038258.1:n.623-7874A>T (TPTE2P5) | |
| NR_038259.1:n.452-7874A>T (TPTE2P5) | |
| ENST00000338625.8:c.781+2T>A (SLC25A15) | ENSP00000342267.4:n.781+2T>A |
| ENST00000707033.1:c.781+2T>A (SLC25A15) | ENSP00000516711.1:n.781+2T>A |