HGVS | Genome Assembly |
---|---|
NC_000011.10:g.22625291G>T , CM000673.2:g.22625291G>T | GRCh38 |
NC_000011.9:g.22646837G>T , CM000673.1:g.22646837G>T | GRCh37 |
NC_000011.8:g.22603413G>T | NCBI36 |
NG_007425.1:g.5551C>A , LRG_527:g.5551C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327470.6:c.520C>A MANE Select | ENSP00000330875.3:p.Leu174Met | |
ENST00000327470.4:c.520C>A | ENSP00000330875.3:p.Leu174Met | |
NM_022725.3:c.520C>A , LRG_527t1:c.520C>A | NP_073562.1:p.Leu174Met | |
NM_022725.4:c.520C>A MANE Select | NP_073562.1:p.Leu174Met |