HGVS | Genome Assembly |
---|---|
NC_000005.10:g.180603313C>T , CM000667.2:g.180603313C>T | GRCh38 |
NC_000005.9:g.180030313C>T , CM000667.1:g.180030313C>T | GRCh37 |
NC_000005.8:g.179962919C>T | NCBI36 |
NG_011536.1:g.51312G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261937.11:c.3971G>A MANE Select | ENSP00000261937.6:p.Arg1324Gln | |
ENST00000261937.10:c.3971G>A | ENSP00000261937.6:p.Arg1324Gln | |
ENST00000502603.5:n.671G>A | ||
NM_182925.4:c.3971G>A | NP_891555.2:p.Arg1324Gln | |
XM_011534477.1:c.4220G>A | XP_011532779.1:p.Arg1407Gln | |
XM_011534478.1:c.4202G>A | XP_011532780.1:p.Arg1401Gln | |
XM_011534479.1:c.*117G>A | XP_011532781.1:n.*117G>A | |
XM_011534482.1:c.3989G>A | XP_011532784.1:p.Arg1330Gln | |
XM_011534483.1:c.3911G>A | XP_011532785.1:p.Arg1304Gln | |
XM_011534484.1:c.3512G>A | XP_011532786.1:p.Arg1171Gln | |
XR_941095.1:n.4257G>A | ||
XM_011534478.3:c.4202G>A | XP_011532780.1:p.Arg1401Gln | |
XM_011534484.2:c.3512G>A | XP_011532786.1:p.Arg1171Gln | |
XM_017009263.1:c.*117G>A | XP_016864752.1:n.*117G>A | |
XM_017009268.1:c.3893G>A | XP_016864757.1:p.Arg1298Gln | |
XR_001742050.2:n.4461G>A | ||
NM_182925.5:c.3971G>A MANE Select | NP_891555.2:p.Arg1324Gln |