HGVS | Genome Assembly |
---|---|
NC_000023.11:g.12883443G>A , CM000685.2:g.12883443G>A | GRCh38 |
NC_000023.10:g.12901562G>A , CM000685.1:g.12901562G>A | GRCh37 |
NC_000023.9:g.12811483G>A | NCBI36 |
NG_012569.1:g.21361G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380659.4:c.4-2069G>A MANE Select | ENSP00000370034.3:n.4-2069G>A | |
ENST00000380659.3:c.4-2069G>A | ENSP00000370034.3:n.4-2069G>A | |
NM_016562.3:c.4-2069G>A | NP_057646.1:n.4-2069G>A | |
NM_016562.4:c.4-2069G>A MANE Select | NP_057646.1:n.4-2069G>A |