HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117807345G>C , CM000670.2:g.117807345G>C | GRCh38 |
NC_000008.10:g.118819584G>C , CM000670.1:g.118819584G>C | GRCh37 |
NC_000008.9:g.118888765G>C | NCBI36 |
NG_007455.2:g.309475C>G , LRG_493:g.309475C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.1222C>G | ||
ENST00000378204.7:c.1755C>G MANE Select | ENSP00000367446.3:p.Phe585Leu | |
ENST00000378204.6:c.1755C>G | ENSP00000367446.2:p.Phe585Leu | |
ENST00000437196.1:c.*646C>G | ENSP00000407299.1:n.*646C>G | |
NM_000127.2:c.1755C>G , LRG_493t1:c.1755C>G | NP_000118.2:p.Phe585Leu | |
NM_000127.3:c.1755C>G MANE Select | NP_000118.2:p.Phe585Leu |