HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88720088G= , CM000678.2:g.88720088G= | GRCh38 |
NC_000016.9:g.88786496G= , CM000678.1:g.88786496G= | GRCh37 |
NC_000016.8:g.87313997G= | NCBI36 |
NG_042229.1:g.70133C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.6145C= MANE Select | ENSP00000301015.9:p.Leu2049= | |
ENST00000466823.3:c.171C= | ||
ENST00000301015.13:c.6145C= | ENSP00000301015.9:p.Leu2049= | |
ENST00000466823.2:c.171C= | ||
ENST00000495568.7:n.386C= | ||
ENST00000497793.2:n.300C= | ||
NM_001142864.2:c.6145C= | NP_001136336.2:p.Leu2049= | |
NM_001142864.3:c.6145C= | NP_001136336.2:p.Leu2049= | |
NM_001142864.4:c.6145C= MANE Select | NP_001136336.2:p.Leu2049= |