HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240878103C>G , CM000664.2:g.240878103C>G | GRCh38 |
NC_000002.11:g.241817520C>G , CM000664.1:g.241817520C>G | GRCh37 |
NC_000002.10:g.241466193C>G | NCBI36 |
NG_008005.1:g.14359C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.1024C>G MANE Select | ENSP00000302620.3:p.His342Asp | |
ENST00000307503.3:c.1024C>G | ENSP00000302620.3:p.His342Asp | |
ENST00000470255.1:n.802C>G | ||
NM_000030.2:c.1024C>G | NP_000021.1:p.His342Asp | |
NM_000030.3:c.1024C>G MANE Select | NP_000021.1:p.His342Asp |