HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794549T>C , CM000671.2:g.77794549T>C | GRCh38 |
NC_000009.11:g.80409465T>C , CM000671.1:g.80409465T>C | GRCh37 |
NC_000009.10:g.79599285T>C | NCBI36 |
NG_027904.2:g.241755A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.649A>G MANE Select | ENSP00000286548.4:p.Ile217Val | |
ENST00000286548.8:c.649A>G | ENSP00000286548.4:p.Ile217Val | |
NM_002072.4:c.649A>G | NP_002063.2:p.Ile217Val | |
XM_017014628.2:c.475A>G | XP_016870117.1:p.Ile159Val | |
NM_002072.5:c.649A>G MANE Select | NP_002063.2:p.Ile217Val |