HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862826A>G , CM000666.2:g.4862826A>G | GRCh38 |
NC_000004.11:g.4864553A>G , CM000666.1:g.4864553A>G | GRCh37 |
NC_000004.10:g.4915454A>G | NCBI36 |
NG_008121.1:g.8162A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.595A>G MANE Select | ENSP00000372170.4:p.Ile199Val | |
ENST00000382723.4:c.595A>G | ENSP00000372170.4:p.Ile199Val | |
ENST00000468421.1:n.307A>G | ||
NM_002448.3:c.595A>G MANE Select | NP_002439.2:p.Ile199Val |