HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240877620C>A , CM000664.2:g.240877620C>A | GRCh38 |
NC_000002.11:g.241817037C>A , CM000664.1:g.241817037C>A | GRCh37 |
NC_000002.10:g.241465710C>A | NCBI36 |
NG_008005.1:g.13876C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.930C>A MANE Select | ENSP00000302620.3:p.Phe310Leu | |
ENST00000307503.3:c.930C>A | ENSP00000302620.3:p.Phe310Leu | |
ENST00000470255.1:n.708C>A | ||
NM_000030.2:c.930C>A | NP_000021.1:p.Phe310Leu | |
NM_000030.3:c.930C>A MANE Select | NP_000021.1:p.Phe310Leu |