HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739305A>G , CM000674.2:g.120739305A>G | GRCh38 |
NC_000012.11:g.121177108A>G , CM000674.1:g.121177108A>G | GRCh37 |
NC_000012.10:g.119661491A>G | NCBI36 |
NG_007991.1:g.18538A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1096A>G MANE Select | ENSP00000242592.4:p.Ile366Val | |
ENST00000242592.8:c.1096A>G | ENSP00000242592.4:p.Ile366Val | |
ENST00000411593.2:c.1084A>G | ENSP00000401045.2:p.Ile362Val | |
NM_000017.3:c.1096A>G | NP_000008.1:p.Ile366Val | |
NM_001302554.1:c.1084A>G | NP_001289483.1:p.Ile362Val | |
NM_000017.4:c.1096A>G MANE Select | NP_000008.1:p.Ile366Val | |
NM_001302554.2:c.1084A>G | NP_001289483.1:p.Ile362Val |