HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118110133T>A , CM000670.2:g.118110133T>A | GRCh38 |
NC_000008.10:g.119122372T>A , CM000670.1:g.119122372T>A | GRCh37 |
NC_000008.9:g.119191553T>A | NCBI36 |
NG_007455.2:g.6687A>T , LRG_493:g.6687A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378204.7:c.914A>T MANE Select | ENSP00000367446.3:p.Gln305Leu | |
ENST00000436216.2:c.282A>T | ||
ENST00000378204.6:c.914A>T | ENSP00000367446.2:p.Gln305Leu | |
ENST00000436216.1:c.282A>T | ||
ENST00000437196.1:c.73+841A>T | ENSP00000407299.1:n.73+841A>T | |
NM_000127.2:c.914A>T , LRG_493t1:c.914A>T | NP_000118.2:p.Gln305Leu | |
NM_000127.3:c.914A>T MANE Select | NP_000118.2:p.Gln305Leu |