HGVS | Genome Assembly |
---|---|
NC_000021.9:g.36731106G>A , CM000683.2:g.36731106G>A | GRCh38 |
NC_000021.8:g.38103407G>A , CM000683.1:g.38103407G>A | GRCh37 |
NC_000021.7:g.37025277G>A | NCBI36 |
NG_029519.1:g.36417G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290399.11:c.805G>A MANE Select | ENSP00000290399.6:p.Val269Met | |
ENST00000290399.10:c.805G>A | ENSP00000290399.6:p.Val269Met | |
ENST00000431229.1:c.617G>A | ||
ENST00000481185.1:n.1418G>A | ||
NM_005069.4:c.805G>A | NP_005060.1:p.Val269Met | |
NM_009586.3:c.805G>A | NP_033664.2:p.Val269Met | |
XM_011529694.1:c.502G>A | XP_011527996.1:p.Val168Met | |
XM_011529695.1:c.400G>A | XP_011527997.1:p.Val134Met | |
NM_005069.5:c.805G>A | NP_005060.1:p.Val269Met | |
NM_009586.4:c.805G>A | NP_033664.2:p.Val269Met | |
XM_017028442.2:c.805G>A | XP_016883931.1:p.Val269Met | |
XR_001754891.2:n.1435G>A | ||
NM_005069.6:c.805G>A MANE Select | NP_005060.1:p.Val269Met | |
NM_009586.5:c.805G>A | NP_033664.2:p.Val269Met |