HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40807408T= , CM000675.2:g.40807408T= | GRCh38 |
NC_000013.10:g.41381544T= , CM000675.1:g.41381544T= | GRCh37 |
NC_000013.9:g.40279544T= | NCBI36 |
NG_012248.1:g.22998T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000707033.1:c.567T= (SLC25A15) | ENSP00000516711.1:p.Gly189= | |
ENST00000338625.9:c.567T= (SLC25A15) MANE Select | ENSP00000342267.4:p.Gly189= | |
ENST00000338625.8:c.567T= (SLC25A15) | ENSP00000342267.4:p.Gly189= | |
ENST00000470509.1:c.*250T= (SLC25A15) | ENSP00000431429.1:n.*250T= | |
ENST00000478827.1:n.1054T= (SLC25A15) | ||
NM_014252.3:c.567T= (SLC25A15) | NP_055067.1:p.Gly189= | |
NR_038258.1:n.623-6684A= (TPTE2P5) | ||
NR_038259.1:n.452-6684A= (TPTE2P5) | ||
NM_014252.4:c.567T= (SLC25A15) MANE Select | NP_055067.1:p.Gly189= |