HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739427G>A , CM000674.2:g.120739427G>A | GRCh38 |
NC_000012.11:g.121177230G>A , CM000674.1:g.121177230G>A | GRCh37 |
NC_000012.10:g.119661613G>A | NCBI36 |
NG_007991.1:g.18660G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1218G>A MANE Select | ENSP00000242592.4:p.Leu406= | |
ENST00000242592.8:c.1218G>A | ENSP00000242592.4:p.Leu406= | |
ENST00000411593.2:c.1206G>A | ENSP00000401045.2:p.Leu402= | |
NM_000017.3:c.1218G>A | NP_000008.1:p.Leu406= | |
NM_001302554.1:c.1206G>A | NP_001289483.1:p.Leu402= | |
NM_000017.4:c.1218G>A MANE Select | NP_000008.1:p.Leu406= | |
NM_001302554.2:c.1206G>A | NP_001289483.1:p.Leu402= |