HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40807419T= , CM000675.2:g.40807419T= | GRCh38 |
NC_000013.10:g.41381555T= , CM000675.1:g.41381555T= | GRCh37 |
NC_000013.9:g.40279555T= | NCBI36 |
NG_012248.1:g.23009T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000707033.1:c.578T= (SLC25A15) | ENSP00000516711.1:p.Leu193= | |
ENST00000338625.9:c.578T= (SLC25A15) MANE Select | ENSP00000342267.4:p.Leu193= | |
ENST00000338625.8:c.578T= (SLC25A15) | ENSP00000342267.4:p.Leu193= | |
ENST00000470509.1:c.*261T= (SLC25A15) | ENSP00000431429.1:n.*261T= | |
ENST00000478827.1:n.1065T= (SLC25A15) | ||
NM_014252.3:c.578T= (SLC25A15) | NP_055067.1:p.Leu193= | |
NR_038258.1:n.623-6695A= (TPTE2P5) | ||
NR_038259.1:n.452-6695A= (TPTE2P5) | ||
NM_014252.4:c.578T= (SLC25A15) MANE Select | NP_055067.1:p.Leu193= |