HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340144C>G , CM000667.2:g.146340144C>G | GRCh38 |
NC_000005.9:g.145719707C>G , CM000667.1:g.145719707C>G | GRCh37 |
NC_000005.8:g.145699900C>G | NCBI36 |
NG_011885.1:g.6121C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.717C>G MANE Select | ENSP00000495718.1:p.Asn239Lys | |
ENST00000230732.4:c.717C>G | ENSP00000230732.4:p.Asn239Lys | |
NM_002700.2:c.717C>G | NP_002691.1:p.Asn239Lys | |
NM_002700.3:c.717C>G MANE Select | NP_002691.1:p.Asn239Lys |