HGVS | Genome Assembly |
---|---|
NC_000017.11:g.75953474C>T , CM000679.2:g.75953474C>T | GRCh38 |
NC_000017.10:g.73949555C>T , CM000679.1:g.73949555C>T | GRCh37 |
NC_000017.9:g.71461150C>T | NCBI36 |
NG_008190.1:g.30890G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301608.9:c.921G>A | ENSP00000301608.4:p.Arg307= | |
ENST00000293217.10:c.921G>A MANE Select | ENSP00000293217.4:p.Arg307= | |
ENST00000293217.9:c.921G>A | ENSP00000293217.4:p.Arg307= | |
ENST00000301608.8:c.921G>A | ENSP00000301608.4:p.Arg307= | |
ENST00000572047.5:c.1095G>A | ENSP00000459936.1:n.1095G>A | |
ENST00000573078.5:c.*410G>A | ENSP00000458325.1:n.*410G>A | |
ENST00000589744.1:n.171G>A | ||
NM_001185039.1:c.807G>A | NP_001171968.1:p.Arg269= | |
NM_004035.6:c.921G>A | NP_004026.2:p.Arg307= | |
NM_007292.5:c.921G>A | NP_009223.2:p.Arg307= | |
XM_011524868.1:c.717G>A | XP_011523170.1:p.Arg239= | |
XM_011524869.1:c.513G>A | XP_011523171.1:p.Arg171= | |
XM_011524868.3:c.717G>A | XP_011523170.1:p.Arg239= | |
XM_011524869.3:c.513G>A | XP_011523171.1:p.Arg171= | |
NM_004035.7:c.921G>A MANE Select | NP_004026.2:p.Arg307= | |
NM_001185039.2:c.807G>A | NP_001171968.1:p.Arg269= | |
NM_007292.6:c.921G>A | NP_009223.2:p.Arg307= |