HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755330C>G , CM000679.2:g.43755330C>G | GRCh38 |
NC_000017.10:g.41832698C>G , CM000679.1:g.41832698C>G | GRCh37 |
NC_000017.9:g.39188224C>G | NCBI36 |
NG_008078.2:g.8459G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.*12G>C MANE Select | ENSP00000301691.1:n.*12G>C | |
ENST00000301691.2:c.*12G>C | ENSP00000301691.1:n.*12G>C | |
NM_025237.2:c.*12G>C | NP_079513.1:n.*12G>C | |
NM_025237.3:c.*12G>C MANE Select | NP_079513.1:n.*12G>C |