HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48364963C>G , CM000675.2:g.48364963C>G | GRCh38 |
NC_000013.10:g.48939099C>G , CM000675.1:g.48939099C>G | GRCh37 |
NC_000013.9:g.47837100C>G | NCBI36 |
NG_009009.1:g.66217C>G , LRG_517:g.66217C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.931C>G MANE Select | ENSP00000267163.4:p.Leu311Val | |
ENST00000650461.1:c.931C>G | ENSP00000497193.1:p.Leu311Val | |
ENST00000267163.4:c.931C>G | ENSP00000267163.4:p.Leu311Val | |
NM_000321.2:c.931C>G , LRG_517t1:c.931C>G | NP_000312.2:p.Leu311Val | |
XM_011535171.1:c.670C>G | XP_011533473.1:p.Leu224Val | |
XM_011535171.2:c.670C>G | XP_011533473.1:p.Leu224Val | |
XR_002957522.1:n.135G>C | ||
NM_000321.3:c.931C>G MANE Select | NP_000312.2:p.Leu311Val |