HGVS | Genome Assembly |
---|---|
NC_000011.10:g.22625089A>C , CM000673.2:g.22625089A>C | GRCh38 |
NC_000011.9:g.22646635A>C , CM000673.1:g.22646635A>C | GRCh37 |
NC_000011.8:g.22603211A>C | NCBI36 |
NG_007425.1:g.5753T>G , LRG_527:g.5753T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327470.6:c.722T>G MANE Select | ENSP00000330875.3:p.Leu241Arg | |
ENST00000327470.4:c.722T>G | ENSP00000330875.3:p.Leu241Arg | |
NM_022725.3:c.722T>G , LRG_527t1:c.722T>G | NP_073562.1:p.Leu241Arg | |
NM_022725.4:c.722T>G MANE Select | NP_073562.1:p.Leu241Arg |