HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23396338G>A , CM000676.2:g.23396338G>A | GRCh38 |
NC_000014.8:g.23865547G>A , CM000676.1:g.23865547G>A | GRCh37 |
NC_000014.7:g.22935387G>A | NCBI36 |
NG_023444.1:g.16940C>T , LRG_389:g.16940C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000405093.9:c.2375C>T MANE Select | ENSP00000386041.3:p.Ala792Val | |
ENST00000356287.3:c.2375C>T | ENSP00000348634.3:p.Ala792Val | |
ENST00000405093.7:c.2375C>T | ENSP00000386041.3:p.Ala792Val | |
NM_002471.3:c.2375C>T , LRG_389t1:c.2375C>T | NP_002462.2:p.Ala792Val | |
NM_002471.4:c.2375C>T MANE Select | NP_002462.2:p.Ala792Val |