HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110169733G= , CM000675.2:g.110169733G= | GRCh38 |
NC_000013.10:g.110822080G= , CM000675.1:g.110822080G= | GRCh37 |
NC_000013.9:g.109620081G= | NCBI36 |
NG_011544.2:g.142417C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375820.10:c.3772C= MANE Select | ENSP00000364979.4:p.Leu1258= | |
ENST00000375820.8:c.3772C= | ENSP00000364979.4:p.Leu1258= | |
NM_001845.5:c.3772C= | NP_001836.3:p.Leu1258= | |
XM_011521048.1:c.3580C= | XP_011519350.1:p.Leu1194= | |
XM_011521048.2:c.3580C= | XP_011519350.1:p.Leu1194= | |
NM_001845.6:c.3772C= MANE Select | NP_001836.3:p.Leu1258= |