HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978109C>A , CM000667.2:g.149978109C>A | GRCh38 |
NC_000005.9:g.149357672C>A , CM000667.1:g.149357672C>A | GRCh37 |
NC_000005.8:g.149337865C>A | NCBI36 |
NG_007147.2:g.19227C>A , LRG_684:g.19227C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.689C>A | ||
ENST00000286298.5:c.457C>A MANE Select | ENSP00000286298.4:p.Leu153Ile | |
ENST00000286298.4:c.457C>A | ENSP00000286298.4:p.Leu153Ile | |
ENST00000503336.1:c.130C>A | ENSP00000426053.1:p.Leu44Ile | |
NM_000112.3:c.457C>A , LRG_684t1:c.457C>A | NP_000103.2:p.Leu153Ile | |
XM_017009191.2:c.457C>A | XP_016864680.1:p.Leu153Ile | |
NM_000112.4:c.457C>A MANE Select | NP_000103.2:p.Leu153Ile |