HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995726G>T , CM000663.2:g.196995726G>T | GRCh38 |
NC_000001.10:g.196964856G>T , CM000663.1:g.196964856G>T | GRCh37 |
NC_000001.9:g.195231479G>T | NCBI36 |
NG_016365.1:g.23190G>T , LRG_227:g.23190G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.362G>T | ENSP00000514393.1:p.Arg121Leu | |
ENST00000699467.1:n.686G>T | ||
ENST00000699468.1:c.-24-388G>T | ENSP00000514394.1:n.-24-388G>T | |
ENST00000256785.5:c.617G>T MANE Select | ENSP00000256785.4:p.Arg206Leu | |
ENST00000256785.4:c.617G>T | ENSP00000256785.4:p.Arg206Leu | |
NM_030787.3:c.617G>T , LRG_227t1:c.617G>T | NP_110414.1:p.Arg206Leu | |
XM_011510020.1:c.626G>T | XP_011508322.1:p.Arg209Leu | |
XM_011510020.2:c.626G>T | XP_011508322.1:p.Arg209Leu | |
NM_030787.4:c.617G>T MANE Select | NP_110414.1:p.Arg206Leu |