HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4863261C>A , CM000666.2:g.4863261C>A | GRCh38 |
NC_000004.11:g.4864988C>A , CM000666.1:g.4864988C>A | GRCh37 |
NC_000004.10:g.4915889C>A | NCBI36 |
NG_008121.1:g.8597C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.*118C>A MANE Select | ENSP00000372170.4:n.*118C>A | |
ENST00000382723.4:c.*118C>A | ENSP00000372170.4:n.*118C>A | |
NM_002448.3:c.*118C>A MANE Select | NP_002439.2:n.*118C>A |