HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154379310C>A , CM000685.2:g.154379310C>A | GRCh38 |
NC_000023.10:g.153607670C>A , CM000685.1:g.153607670C>A | GRCh37 |
NC_000023.9:g.153260864C>A | NCBI36 |
NG_008677.1:g.9875C>A , LRG_745:g.9875C>A | |
NG_011506.1:g.337G>T | |
NG_011506.2:g.329G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369842.9:c.-175C>A MANE Select | ENSP00000358857.4:n.-175C>A | |
ENST00000369835.3:c.-175C>A | ENSP00000358850.3:n.-175C>A | |
ENST00000369842.8:c.-175C>A | ENSP00000358857.4:n.-175C>A | |
NM_000117.2:c.-175C>A , LRG_745t1:c.-175C>A | NP_000108.1:n.-175C>A | |
XM_024452349.1:c.-383C>A | XP_024308117.1:n.-383C>A | |
NM_000117.3:c.-175C>A MANE Select | NP_000108.1:n.-175C>A |