HGVS | Genome Assembly |
---|---|
NC_000011.10:g.22625092C>A , CM000673.2:g.22625092C>A | GRCh38 |
NC_000011.9:g.22646638C>A , CM000673.1:g.22646638C>A | GRCh37 |
NC_000011.8:g.22603214C>A | NCBI36 |
NG_007425.1:g.5750G>T , LRG_527:g.5750G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327470.6:c.719G>T MANE Select | ENSP00000330875.3:p.Trp240Leu | |
ENST00000327470.4:c.719G>T | ENSP00000330875.3:p.Trp240Leu | |
NM_022725.3:c.719G>T , LRG_527t1:c.719G>T | NP_073562.1:p.Trp240Leu | |
NM_022725.4:c.719G>T MANE Select | NP_073562.1:p.Trp240Leu |