HGVS | Genome Assembly |
---|---|
NC_000002.12:g.208124142G>T , CM000664.2:g.208124142G>T | GRCh38 |
NC_000002.11:g.208988866G>T , CM000664.1:g.208988866G>T | GRCh37 |
NC_000002.10:g.208697111G>T | NCBI36 |
NG_008039.1:g.5448C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264376.5:c.222C>A MANE Select | ENSP00000264376.4:p.Asp74Glu | |
ENST00000264376.4:c.222C>A | ENSP00000264376.4:p.Asp74Glu | |
NM_006891.3:c.222C>A | NP_008822.2:p.Asp74Glu | |
NR_038437.1:n.97+4917G>T | ||
NM_006891.4:c.222C>A MANE Select | NP_008822.2:p.Asp74Glu |