HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029857G>C , CM000666.2:g.52029857G>C | GRCh38 |
NC_000004.11:g.52896023G>C , CM000666.1:g.52896023G>C | GRCh37 |
NC_000004.10:g.52590780G>C | NCBI36 |
NG_008891.1:g.13463C>G , LRG_204:g.13463C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.250C>G MANE Select | ENSP00000370839.6:p.Leu84Val | |
ENST00000381431.9:c.250C>G | ENSP00000370839.5:p.Leu84Val | |
ENST00000506357.5:c.333C>G | ||
ENST00000514133.1:c.327C>G | ENSP00000425818.1:n.327C>G | |
NM_000232.4:c.250C>G , LRG_204t1:c.250C>G | NP_000223.1:p.Leu84Val | |
XM_006714049.2:c.-48C>G | XP_006714112.1:n.-48C>G | |
XM_011534403.1:c.40C>G | XP_011532705.1:p.Leu14Val | |
XM_011534404.1:c.-48C>G | XP_011532706.1:n.-48C>G | |
NM_000232.5:c.250C>G MANE Select | NP_000223.1:p.Leu84Val |