HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154379368G>C , CM000685.2:g.154379368G>C | GRCh38 |
NC_000023.10:g.153607728G>C , CM000685.1:g.153607728G>C | GRCh37 |
NC_000023.9:g.153260922G>C | NCBI36 |
NG_008677.1:g.9933G>C , LRG_745:g.9933G>C | |
NG_011506.1:g.279C>G | |
NG_011506.2:g.271C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369842.9:c.-117G>C MANE Select | ENSP00000358857.4:n.-117G>C | |
ENST00000369835.3:c.-117G>C | ENSP00000358850.3:n.-117G>C | |
ENST00000369842.8:c.-117G>C | ENSP00000358857.4:n.-117G>C | |
ENST00000428228.5:c.-117G>C | ENSP00000401081.1:n.-117G>C | |
ENST00000486738.5:n.28G>C | ||
NM_000117.2:c.-117G>C , LRG_745t1:c.-117G>C | NP_000108.1:n.-117G>C | |
XM_024452349.1:c.-325G>C | XP_024308117.1:n.-325G>C | |
NM_000117.3:c.-117G>C MANE Select | NP_000108.1:n.-117G>C |