HGVS | Genome Assembly |
---|---|
NC_000011.10:g.22625290A>T , CM000673.2:g.22625290A>T | GRCh38 |
NC_000011.9:g.22646836A>T , CM000673.1:g.22646836A>T | GRCh37 |
NC_000011.8:g.22603412A>T | NCBI36 |
NG_007425.1:g.5552T>A , LRG_527:g.5552T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327470.6:c.521T>A MANE Select | ENSP00000330875.3:p.Leu174Gln | |
ENST00000327470.4:c.521T>A | ENSP00000330875.3:p.Leu174Gln | |
NM_022725.3:c.521T>A , LRG_527t1:c.521T>A | NP_073562.1:p.Leu174Gln | |
NM_022725.4:c.521T>A MANE Select | NP_073562.1:p.Leu174Gln |