HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23047805C>T , CM000682.2:g.23047805C>T | GRCh38 |
NC_000020.10:g.23028442C>T , CM000682.1:g.23028442C>T | GRCh37 |
NC_000020.9:g.22976442C>T | NCBI36 |
NG_012027.1:g.6860G>A , LRG_168:g.6860G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377103.3:c.1700G>A MANE Select | ENSP00000366307.2:p.Arg567Gln | |
ENST00000377103.2:c.1700G>A | ENSP00000366307.2:p.Arg567Gln | |
NM_000361.2:c.1700G>A , LRG_168t1:c.1700G>A | NP_000352.1:p.Arg567Gln | |
NM_000361.3:c.1700G>A MANE Select | NP_000352.1:p.Arg567Gln |