HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110491286G>A , CM000675.2:g.110491286G>A | GRCh38 |
NC_000013.10:g.111143633G>A , CM000675.1:g.111143633G>A | GRCh37 |
NC_000013.9:g.109941634G>A | NCBI36 |
NG_032137.1:g.189003G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360467.7:c.3400G>A MANE Select | ENSP00000353654.5:p.Gly1134Arg | |
ENST00000650225.1:n.1055G>A | ||
ENST00000360467.5:c.3400G>A | ENSP00000353654.5:p.Gly1134Arg | |
NM_001846.2:c.3400G>A | NP_001837.2:p.Gly1134Arg | |
NM_001846.3:c.3400G>A | NP_001837.2:p.Gly1134Arg | |
NM_001846.4:c.3400G>A MANE Select | NP_001837.2:p.Gly1134Arg |