HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151011004C>A , CM000669.2:g.151011004C>A | GRCh38 |
NC_000007.13:g.150708092C>A , CM000669.1:g.150708092C>A | GRCh37 |
NC_000007.12:g.150339025C>A | NCBI36 |
NG_011992.1:g.24946C>A | |
NG_030317.1:g.18496G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297494.8:c.2984+18C>A MANE Select | ENSP00000297494.3:n.2984+18C>A | |
ENST00000297494.7:c.2984+18C>A | ENSP00000297494.3:n.2984+18C>A | |
ENST00000461406.5:c.2366+18C>A | ENSP00000417143.1:n.2366+18C>A | |
ENST00000468293.5:n.467+18C>A | ||
ENST00000475017.1:c.865+18C>A | ||
ENST00000477227.1:n.363+18C>A | ||
NM_000603.4:c.2984+18C>A | NP_000594.2:n.2984+18C>A | |
NM_000603.5:c.2984+18C>A MANE Select | NP_000594.2:n.2984+18C>A |