HGVS | Genome Assembly |
---|---|
NC_000023.11:g.139561754G>A , CM000685.2:g.139561754G>A | GRCh38 |
NC_000023.10:g.138643913G>A , CM000685.1:g.138643913G>A | GRCh37 |
NC_000023.9:g.138471579G>A | NCBI36 |
NG_007994.1:g.36019G>A , LRG_556:g.36019G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218099.7:c.1069G>A MANE Select | ENSP00000218099.2:p.Gly357Arg | |
ENST00000643157.1:n.1723+13G>A | ||
ENST00000218099.6:c.1069G>A | ENSP00000218099.2:p.Gly357Arg | |
ENST00000394090.2:c.955G>A | ENSP00000377650.2:p.Gly319Arg | |
NM_000133.3:c.1069G>A , LRG_556t1:c.1069G>A | NP_000124.1:p.Gly357Arg | |
NM_001313913.1:c.955G>A | NP_001300842.1:p.Gly319Arg | |
XM_005262397.3:c.940G>A | XP_005262454.1:p.Gly314Arg | |
XM_005262397.4:c.940G>A | XP_005262454.1:p.Gly314Arg | |
NM_000133.4:c.1069G>A MANE Select | NP_000124.1:p.Gly357Arg | |
NM_001313913.2:c.955G>A | NP_001300842.1:p.Gly319Arg |