HGVS | Genome Assembly |
---|---|
NC_000001.11:g.206116705C>T , CM000663.2:g.206116705C>T | GRCh38 |
NC_000001.10:g.206224626G>A , CM000663.1:g.206224626G>A | GRCh37 |
NC_000001.9:g.204391249G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367126.5:c.186G>A MANE Select | ENSP00000356094.4:p.Leu62= | |
ENST00000367126.4:c.186G>A | ENSP00000356094.4:p.Leu62= | |
ENST00000612906.1:n.36+959G>A | ||
NM_000707.3:c.186G>A | NP_000698.1:p.Leu62= | |
NM_000707.4:c.186G>A | NP_000698.1:p.Leu62= | |
NM_000707.5:c.186G>A MANE Select | NP_000698.1:p.Leu62= |