HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48349016A= , CM000675.2:g.48349016A= | GRCh38 |
NC_000013.10:g.48923152A= , CM000675.1:g.48923152A= | GRCh37 |
NC_000013.9:g.47821153A= | NCBI36 |
NG_009009.1:g.50270A= , LRG_517:g.50270A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.600A= MANE Select | ENSP00000267163.4:p.Leu200= | |
ENST00000650461.1:c.600A= | ENSP00000497193.1:p.Leu200= | |
ENST00000267163.4:c.600A= | ENSP00000267163.4:p.Leu200= | |
ENST00000467505.5:c.138-11001A= | ENSP00000434702.1:n.138-11001A= | |
ENST00000525036.1:n.762A= | ||
NM_000321.2:c.600A= , LRG_517t1:c.600A= | NP_000312.2:p.Leu200= | |
XM_011535171.1:c.339A= | XP_011533473.1:p.Leu113= | |
XM_011535171.2:c.339A= | XP_011533473.1:p.Leu113= | |
NM_000321.3:c.600A= MANE Select | NP_000312.2:p.Leu200= |