HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869170A>G , CM000664.2:g.240869170A>G | GRCh38 |
NC_000002.11:g.241808587A>G , CM000664.1:g.241808587A>G | GRCh37 |
NC_000002.10:g.241457260A>G | NCBI36 |
NG_008005.1:g.5426A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.166A>G MANE Select | ENSP00000302620.3:p.Ile56Val | |
ENST00000307503.3:c.166A>G | ENSP00000302620.3:p.Ile56Val | |
ENST00000472436.1:n.186A>G | ||
NM_000030.2:c.166A>G | NP_000021.1:p.Ile56Val | |
XR_924060.1:n.405+1063T>C | ||
NM_000030.3:c.166A>G MANE Select | NP_000021.1:p.Ile56Val |