HGVS | Genome Assembly |
---|---|
NC_000011.10:g.763931C>A , CM000673.2:g.763931C>A | GRCh38 |
NC_000011.9:g.763931C>A , CM000673.1:g.763931C>A | GRCh37 |
NC_000011.8:g.753931C>A | NCBI36 |
NG_008160.1:g.21500C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319006.8:c.822C>A MANE Select | ENSP00000321259.3:p.Leu274= | |
ENST00000319006.7:c.822C>A | ENSP00000321259.3:p.Leu274= | |
ENST00000528097.5:c.822C>A | ENSP00000437098.1:p.Leu274= | |
NM_006755.1:c.822C>A | NP_006746.1:p.Leu274= | |
NM_006755.2:c.822C>A MANE Select | NP_006746.1:p.Leu274= |