HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835470T>G , CM000670.2:g.117835470T>G | GRCh38 |
NC_000008.10:g.118847709T>G , CM000670.1:g.118847709T>G | GRCh37 |
NC_000008.9:g.118916890T>G | NCBI36 |
NG_007455.2:g.281350A>C , LRG_493:g.281350A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.605A>C | ||
ENST00000378204.7:c.1138A>C MANE Select | ENSP00000367446.3:p.Ile380Leu | |
ENST00000436216.2:c.506A>C | ||
ENST00000378204.6:c.1138A>C | ENSP00000367446.2:p.Ile380Leu | |
ENST00000436216.1:c.506A>C | ||
ENST00000437196.1:c.*29A>C | ENSP00000407299.1:n.*29A>C | |
NM_000127.2:c.1138A>C , LRG_493t1:c.1138A>C | NP_000118.2:p.Ile380Leu | |
NM_000127.3:c.1138A>C MANE Select | NP_000118.2:p.Ile380Leu |