HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23048092G>A , CM000682.2:g.23048092G>A | GRCh38 |
NC_000020.10:g.23028729G>A , CM000682.1:g.23028729G>A | GRCh37 |
NC_000020.9:g.22976729G>A | NCBI36 |
NG_012027.1:g.6573C>T , LRG_168:g.6573C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377103.3:c.1413C>T MANE Select | ENSP00000366307.2:p.Ala471= | |
ENST00000377103.2:c.1413C>T | ENSP00000366307.2:p.Ala471= | |
NM_000361.2:c.1413C>T , LRG_168t1:c.1413C>T | NP_000352.1:p.Ala471= | |
NM_000361.3:c.1413C>T MANE Select | NP_000352.1:p.Ala471= |