HGVS | Genome Assembly |
---|---|
NC_000023.11:g.54495016G>C , CM000685.2:g.54495016G>C | GRCh38 |
NC_000023.10:g.54521449G>C , CM000685.1:g.54521449G>C | GRCh37 |
NC_000023.9:g.54538174G>C | NCBI36 |
NG_008054.1:g.6151C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375135.4:c.307+110C>G MANE Select | ENSP00000364277.3:n.307+110C>G | |
ENST00000375135.3:c.307+110C>G | ENSP00000364277.3:n.307+110C>G | |
NM_004463.2:c.307+110C>G | NP_004454.2:n.307+110C>G | |
NM_004463.3:c.307+110C>G MANE Select | NP_004454.2:n.307+110C>G |