HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942757T>C , CM000678.2:g.67942757T>C | GRCh38 |
NC_000016.9:g.67976660T>C , CM000678.1:g.67976660T>C | GRCh37 |
NC_000016.8:g.66534161T>C | NCBI36 |
NG_009778.1:g.6356A>G | |
NG_033098.1:g.30938A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.437A>G MANE Select | ENSP00000264005.5:p.His146Arg | |
ENST00000264005.9:c.437A>G | ENSP00000264005.5:p.His146Arg | |
ENST00000570369.5:c.155+104A>G | ||
ENST00000570980.1:c.221A>G | ENSP00000464651.1:p.His74Arg | |
ENST00000573538.5:c.80A>G | ENSP00000463220.1:p.His27Arg | |
ENST00000573846.1:n.51A>G | ||
ENST00000575277.1:n.215A>G | ||
ENST00000575467.5:c.*132A>G | ENSP00000460653.1:n.*132A>G | |
NM_000229.1:c.437A>G | NP_000220.1:p.His146Arg | |
NM_000229.2:c.437A>G MANE Select | NP_000220.1:p.His146Arg |