HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240873220C>A , CM000664.2:g.240873220C>A | GRCh38 |
NC_000002.11:g.241812637C>A , CM000664.1:g.241812637C>A | GRCh37 |
NC_000002.10:g.241461310C>A | NCBI36 |
NG_008005.1:g.9476C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.595+171C>A MANE Select | ENSP00000302620.3:n.595+171C>A | |
ENST00000307503.3:c.595+171C>A | ENSP00000302620.3:n.595+171C>A | |
ENST00000472436.1:n.786C>A | ||
ENST00000476698.1:n.332+171C>A | ||
NM_000030.2:c.595+171C>A | NP_000021.1:n.595+171C>A | |
NM_000030.3:c.595+171C>A MANE Select | NP_000021.1:n.595+171C>A |