HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951935T>G , CM000670.2:g.19951935T>G | GRCh38 |
NC_000008.10:g.19809446T>G , CM000670.1:g.19809446T>G | GRCh37 |
NC_000008.9:g.19853726T>G | NCBI36 |
NG_008855.1:g.17865T>G | |
NG_008855.2:g.55219T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.416T>G MANE Select | ENSP00000497642.1:p.Ile139Ser | |
ENST00000311322.8:c.416T>G | ENSP00000309757.6:p.Ile139Ser | |
ENST00000520959.5:c.188T>G | ENSP00000428496.1:p.Ile63Ser | |
NM_000237.2:c.416T>G | NP_000228.1:p.Ile139Ser | |
NM_000237.3:c.416T>G MANE Select | NP_000228.1:p.Ile139Ser |