HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4090333C>A , CM000681.2:g.4090333C>A | GRCh38 |
NC_000019.9:g.4090331C>A , CM000681.1:g.4090331C>A | GRCh37 |
NC_000019.8:g.4041331C>A | NCBI36 |
NG_007996.1:g.38796G>T , LRG_750:g.38796G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000689792.1:n.1372G>T | ||
ENST00000262948.10:c.*265G>T MANE Select | ENSP00000262948.4:n.*265G>T | |
ENST00000262948.9:c.*265G>T | ENSP00000262948.3:n.*265G>T | |
ENST00000394867.8:c.*265G>T | ENSP00000378336.1:n.*265G>T | |
ENST00000600584.5:n.2917G>T | ||
ENST00000601786.5:n.1769G>T | ||
NM_030662.3:c.*265G>T , LRG_750t1:c.*265G>T | NP_109587.1:n.*265G>T | |
XM_006722799.2:c.*265G>T | XP_006722862.1:n.*265G>T | |
XM_011528133.1:c.*265G>T | XP_011526435.1:n.*265G>T | |
NM_030662.4:c.*265G>T MANE Select | NP_109587.1:n.*265G>T |