HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372352T>C , CM000679.2:g.44372352T>C | GRCh38 |
NC_000017.10:g.42449720T>C , CM000679.1:g.42449720T>C | GRCh37 |
NC_000017.9:g.39805246T>C | NCBI36 |
NG_008331.1:g.22154A>G , LRG_479:g.22154A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.*12A>G MANE Select | ENSP00000262407.5:n.*12A>G | |
ENST00000648408.1:c.2446A>G | ||
ENST00000262407.5:c.*12A>G | ENSP00000262407.5:n.*12A>G | |
ENST00000587295.5:c.325A>G | ||
ENST00000588098.1:c.109A>G | ||
NM_000419.3:c.*12A>G , LRG_479t1:c.*12A>G | NP_000410.2:n.*12A>G | |
XM_011524749.1:c.*12A>G | XP_011523051.1:n.*12A>G | |
XM_011524750.1:c.*12A>G | XP_011523052.1:n.*12A>G | |
NM_000419.4:c.*12A>G | NP_000410.2:n.*12A>G | |
NM_000419.5:c.*12A>G MANE Select | NP_000410.2:n.*12A>G |