HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739403G>A , CM000674.2:g.120739403G>A | GRCh38 |
NC_000012.11:g.121177206G>A , CM000674.1:g.121177206G>A | GRCh37 |
NC_000012.10:g.119661589G>A | NCBI36 |
NG_007991.1:g.18636G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1194G>A MANE Select | ENSP00000242592.4:p.Gln398= | |
ENST00000242592.8:c.1194G>A | ENSP00000242592.4:p.Gln398= | |
ENST00000411593.2:c.1182G>A | ENSP00000401045.2:p.Gln394= | |
NM_000017.3:c.1194G>A | NP_000008.1:p.Gln398= | |
NM_001302554.1:c.1182G>A | NP_001289483.1:p.Gln394= | |
NM_000017.4:c.1194G>A MANE Select | NP_000008.1:p.Gln398= | |
NM_001302554.2:c.1182G>A | NP_001289483.1:p.Gln394= |