HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995851A>G , CM000663.2:g.196995851A>G | GRCh38 |
NC_000001.10:g.196964981A>G , CM000663.1:g.196964981A>G | GRCh37 |
NC_000001.9:g.195231604A>G | NCBI36 |
NG_016365.1:g.23315A>G , LRG_227:g.23315A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.487A>G | ENSP00000514393.1:p.Lys163Glu | |
ENST00000699467.1:n.811A>G | ||
ENST00000699468.1:c.-24-263A>G | ENSP00000514394.1:n.-24-263A>G | |
ENST00000256785.5:c.742A>G MANE Select | ENSP00000256785.4:p.Lys248Glu | |
ENST00000256785.4:c.742A>G | ENSP00000256785.4:p.Lys248Glu | |
NM_030787.3:c.742A>G , LRG_227t1:c.742A>G | NP_110414.1:p.Lys248Glu | |
XM_011510020.1:c.751A>G | XP_011508322.1:p.Lys251Glu | |
XM_011510020.2:c.751A>G | XP_011508322.1:p.Lys251Glu | |
NM_030787.4:c.742A>G MANE Select | NP_110414.1:p.Lys248Glu |