HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404246G>T , CM000666.2:g.73404246G>T | GRCh38 |
NC_000004.11:g.74269963G>T , CM000666.1:g.74269963G>T | GRCh37 |
NC_000004.10:g.74488827G>T | NCBI36 |
NG_009291.1:g.4992G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.8:c.-82G>T | ENSP00000295897.4:n.-82G>T | |
ENST00000441319.5:c.48-123G>T | ENSP00000392541.1:n.48-123G>T | |
NM_000477.6:c.-82G>T | NP_000468.1:n.-82G>T |