HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48349014T>G , CM000675.2:g.48349014T>G | GRCh38 |
NC_000013.10:g.48923150T>G , CM000675.1:g.48923150T>G | GRCh37 |
NC_000013.9:g.47821151T>G | NCBI36 |
NG_009009.1:g.50268T>G , LRG_517:g.50268T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.598T>G MANE Select | ENSP00000267163.4:p.Leu200Val | |
ENST00000650461.1:c.598T>G | ENSP00000497193.1:p.Leu200Val | |
ENST00000267163.4:c.598T>G | ENSP00000267163.4:p.Leu200Val | |
ENST00000467505.5:c.138-11003T>G | ENSP00000434702.1:n.138-11003T>G | |
ENST00000525036.1:n.760T>G | ||
NM_000321.2:c.598T>G , LRG_517t1:c.598T>G | NP_000312.2:p.Leu200Val | |
XM_011535171.1:c.337T>G | XP_011533473.1:p.Leu113Val | |
XM_011535171.2:c.337T>G | XP_011533473.1:p.Leu113Val | |
NM_000321.3:c.598T>G MANE Select | NP_000312.2:p.Leu200Val |