HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045806G>A , CM000674.2:g.5045806G>A | GRCh38 |
NC_000012.11:g.5154972G>A , CM000674.1:g.5154972G>A | GRCh37 |
NC_000012.10:g.5025233G>A | NCBI36 |
NG_012198.1:g.6888G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.1659G>A MANE Select | ENSP00000252321.3:p.Gln553= | |
ENST00000252321.4:c.1659G>A | ENSP00000252321.3:p.Gln553= | |
NM_002234.3:c.1659G>A | NP_002225.2:p.Gln553= | |
NM_002234.4:c.1659G>A MANE Select | NP_002225.2:p.Gln553= |