HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46010974C>A , CM000682.2:g.46010974C>A | GRCh38 |
NC_000020.10:g.44639613C>A , CM000682.1:g.44639613C>A | GRCh37 |
NC_000020.9:g.44073020C>A | NCBI36 |
NG_011468.1:g.7067C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.573C>A MANE Select | ENSP00000361405.3:p.Ala191= | |
NM_004994.2:c.573C>A | NP_004985.2:p.Ala191= | |
NM_004994.3:c.573C>A MANE Select | NP_004985.2:p.Ala191= |