HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372393G>C , CM000679.2:g.44372393G>C | GRCh38 |
NC_000017.10:g.42449761G>C , CM000679.1:g.42449761G>C | GRCh37 |
NC_000017.9:g.39805287G>C | NCBI36 |
NG_008331.1:g.22113C>G , LRG_479:g.22113C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3091C>G MANE Select | ENSP00000262407.5:p.Leu1031Val | |
ENST00000648408.1:c.2405C>G | ||
ENST00000262407.5:c.3091C>G | ENSP00000262407.5:p.Leu1031Val | |
ENST00000587295.5:c.284C>G | ||
ENST00000588098.1:c.68C>G | ||
NM_000419.3:c.3091C>G , LRG_479t1:c.3091C>G | NP_000410.2:p.Leu1031Val | |
XM_011524749.1:c.2989C>G | XP_011523051.1:p.Leu997Val | |
XM_011524750.1:c.2974C>G | XP_011523052.1:p.Leu992Val | |
NM_000419.4:c.3091C>G | NP_000410.2:p.Leu1031Val | |
NM_000419.5:c.3091C>G MANE Select | NP_000410.2:p.Leu1031Val |