HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046343C>T , CM000667.2:g.136046343C>T | GRCh38 |
NC_000005.9:g.135382032C>T , CM000667.1:g.135382032C>T | GRCh37 |
NC_000005.8:g.135409931C>T | NCBI36 |
NG_012646.1:g.22449C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.307C>T MANE Select | ENSP00000416330.2:p.Leu103Phe | |
ENST00000442011.6:c.307C>T | ENSP00000416330.2:p.Leu103Phe | |
ENST00000504185.5:n.464C>T | ||
ENST00000506699.5:n.372C>T | ||
ENST00000507018.5:c.224C>T | ||
ENST00000515433.1:n.599C>T | ||
NM_000358.2:c.307C>T | NP_000349.1:p.Leu103Phe | |
NM_000358.3:c.307C>T MANE Select | NP_000349.1:p.Leu103Phe |