HGVS | Genome Assembly |
---|---|
NC_000023.11:g.54495012C>A , CM000685.2:g.54495012C>A | GRCh38 |
NC_000023.10:g.54521445C>A , CM000685.1:g.54521445C>A | GRCh37 |
NC_000023.9:g.54538170C>A | NCBI36 |
NG_008054.1:g.6155G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375135.4:c.307+114G>T MANE Select | ENSP00000364277.3:n.307+114G>T | |
ENST00000375135.3:c.307+114G>T | ENSP00000364277.3:n.307+114G>T | |
NM_004463.2:c.307+114G>T | NP_004454.2:n.307+114G>T | |
NM_004463.3:c.307+114G>T MANE Select | NP_004454.2:n.307+114G>T |