HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23375587C>A , CM000676.2:g.23375587C>A | GRCh38 |
NC_000014.8:g.23844796C>A , CM000676.1:g.23844796C>A | GRCh37 |
NC_000014.7:g.22914636C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397242.3:c.231-38C>A MANE Select | ENSP00000380417.2:n.231-38C>A | |
ENST00000329715.2:c.279-38C>A | ENSP00000328111.2:n.279-38C>A | |
ENST00000397242.2:c.231-38C>A | ENSP00000380417.2:n.231-38C>A | |
NM_022789.3:c.279-38C>A | NP_073626.1:n.279-38C>A | |
NM_172314.1:c.231-38C>A | NP_758525.1:n.231-38C>A |