HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48364963C>A , CM000675.2:g.48364963C>A | GRCh38 |
NC_000013.10:g.48939099C>A , CM000675.1:g.48939099C>A | GRCh37 |
NC_000013.9:g.47837100C>A | NCBI36 |
NG_009009.1:g.66217C>A , LRG_517:g.66217C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.931C>A MANE Select | ENSP00000267163.4:p.Leu311Ile | |
ENST00000650461.1:c.931C>A | ENSP00000497193.1:p.Leu311Ile | |
ENST00000267163.4:c.931C>A | ENSP00000267163.4:p.Leu311Ile | |
NM_000321.2:c.931C>A , LRG_517t1:c.931C>A | NP_000312.2:p.Leu311Ile | |
XM_011535171.1:c.670C>A | XP_011533473.1:p.Leu224Ile | |
XM_011535171.2:c.670C>A | XP_011533473.1:p.Leu224Ile | |
XR_002957522.1:n.135G>T | ||
NM_000321.3:c.931C>A MANE Select | NP_000312.2:p.Leu311Ile |