HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116833031C>G , CM000673.2:g.116833031C>G | GRCh38 |
NC_000011.9:g.116703747C>G , CM000673.1:g.116703747C>G | GRCh37 |
NC_000011.8:g.116208957C>G | NCBI36 |
NG_008949.1:g.8124C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.*147C>G MANE Select | ENSP00000227667.2:n.*147C>G | |
ENST00000227667.7:c.*147C>G | ENSP00000227667.2:n.*147C>G | |
ENST00000375345.3:c.*147C>G | ENSP00000364494.1:n.*147C>G | |
ENST00000630701.1:c.501C>G | ENSP00000486182.1:n.501C>G | |
NM_000040.1:c.*147C>G | NP_000031.1:n.*147C>G | |
NM_000040.2:c.*147C>G | NP_000031.1:n.*147C>G | |
NM_000040.3:c.*147C>G MANE Select | NP_000031.1:n.*147C>G |