HGVS | Genome Assembly |
---|---|
NC_000011.10:g.763403A>T , CM000673.2:g.763403A>T | GRCh38 |
NC_000011.9:g.763403A>T , CM000673.1:g.763403A>T | GRCh37 |
NC_000011.8:g.753403A>T | NCBI36 |
NG_008160.1:g.20972A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319006.8:c.521A>T MANE Select | ENSP00000321259.3:p.Gln174Leu | |
ENST00000319006.7:c.521A>T | ENSP00000321259.3:p.Gln174Leu | |
ENST00000528070.5:c.*519A>T | ENSP00000435042.1:n.*519A>T | |
ENST00000528097.5:c.521A>T | ENSP00000437098.1:p.Gln174Leu | |
ENST00000530440.1:c.*180A>T | ENSP00000433501.1:n.*180A>T | |
NM_006755.1:c.521A>T | NP_006746.1:p.Gln174Leu | |
NM_006755.2:c.521A>T MANE Select | NP_006746.1:p.Gln174Leu |