HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740586G>C , CM000666.2:g.67740586G>C | GRCh38 |
NC_000004.11:g.68606304G>C , CM000666.1:g.68606304G>C | GRCh37 |
NC_000004.10:g.68288899G>C | NCBI36 |
NG_009293.1:g.20501C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.881C>G MANE Select | ENSP00000226413.5:p.Pro294Arg | |
ENST00000226413.4:c.881C>G | ENSP00000226413.4:p.Pro294Arg | |
ENST00000420975.2:c.753C>G | ENSP00000397561.2:n.753C>G | |
NM_000406.2:c.881C>G | NP_000397.1:p.Pro294Arg | |
NM_001012763.1:c.*3C>G | NP_001012781.1:n.*3C>G | |
NM_000406.3:c.881C>G MANE Select | NP_000397.1:p.Pro294Arg | |
NM_001012763.2:c.*3C>G | NP_001012781.1:n.*3C>G |