HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659346C>G , CM000685.2:g.136659346C>G | GRCh38 |
NC_000023.10:g.135741505C>G , CM000685.1:g.135741505C>G | GRCh37 |
NC_000023.9:g.135569171C>G | NCBI36 |
NG_007280.1:g.16170C>G , LRG_141:g.16170C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*335C>G | ENSP00000512122.1:n.*335C>G | |
ENST00000695725.1:c.*272C>G | ENSP00000512123.1:n.*272C>G | |
ENST00000695726.1:n.2685C>G | ||
ENST00000695729.1:n.3520C>G | ||
ENST00000370629.7:c.717C>G MANE Select | ENSP00000359663.2:p.Val239= | |
ENST00000370628.2:c.654C>G | ENSP00000359662.2:p.Val218= | |
ENST00000370629.6:c.717C>G | ENSP00000359663.2:p.Val239= | |
NM_000074.2:c.717C>G , LRG_141t1:c.717C>G | NP_000065.1:p.Val239= | |
NM_000074.3:c.717C>G MANE Select | NP_000065.1:p.Val239= |