HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23047806G>T , CM000682.2:g.23047806G>T | GRCh38 |
NC_000020.10:g.23028443G>T , CM000682.1:g.23028443G>T | GRCh37 |
NC_000020.9:g.22976443G>T | NCBI36 |
NG_012027.1:g.6859C>A , LRG_168:g.6859C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377103.3:c.1699C>A MANE Select | ENSP00000366307.2:p.Arg567= | |
ENST00000377103.2:c.1699C>A | ENSP00000366307.2:p.Arg567= | |
NM_000361.2:c.1699C>A , LRG_168t1:c.1699C>A | NP_000352.1:p.Arg567= | |
NM_000361.3:c.1699C>A MANE Select | NP_000352.1:p.Arg567= |