HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55052749C>A , CM000663.2:g.55052749C>A | GRCh38 |
NC_000001.10:g.55518422C>A , CM000663.1:g.55518422C>A | GRCh37 |
NC_000001.9:g.55291010C>A | NCBI36 |
NG_009061.1:g.18203C>A , LRG_275:g.18203C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.757C>A | ENSP00000501161.2:p.Leu253Ile | |
ENST00000710286.1:c.1114C>A | ENSP00000518176.1:p.Leu372Ile | |
ENST00000673903.1:c.382C>A | ENSP00000501257.1:p.Leu128Ile | |
ENST00000302118.5:c.757C>A MANE Select | ENSP00000303208.5:p.Leu253Ile | |
ENST00000490692.1:n.1578C>A | ||
NM_174936.3:c.757C>A , LRG_275t1:c.757C>A | NP_777596.2:p.Leu253Ile | |
NR_110451.1:n.416C>A | ||
NM_174936.4:c.757C>A MANE Select | NP_777596.2:p.Leu253Ile | |
NR_110451.2:n.416C>A |