HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372336T>C , CM000679.2:g.44372336T>C | GRCh38 |
NC_000017.10:g.42449704T>C , CM000679.1:g.42449704T>C | GRCh37 |
NC_000017.9:g.39805230T>C | NCBI36 |
NG_008331.1:g.22170A>G , LRG_479:g.22170A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.*28A>G MANE Select | ENSP00000262407.5:n.*28A>G | |
ENST00000648408.1:c.2462A>G | ||
ENST00000262407.5:c.*28A>G | ENSP00000262407.5:n.*28A>G | |
ENST00000587295.5:c.341A>G | ||
ENST00000588098.1:c.125A>G | ||
NM_000419.3:c.*28A>G , LRG_479t1:c.*28A>G | NP_000410.2:n.*28A>G | |
XM_011524749.1:c.*28A>G | XP_011523051.1:n.*28A>G | |
XM_011524750.1:c.*28A>G | XP_011523052.1:n.*28A>G | |
NM_000419.4:c.*28A>G | NP_000410.2:n.*28A>G | |
NM_000419.5:c.*28A>G MANE Select | NP_000410.2:n.*28A>G |