HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118110105T>C , CM000670.2:g.118110105T>C | GRCh38 |
NC_000008.10:g.119122344T>C , CM000670.1:g.119122344T>C | GRCh37 |
NC_000008.9:g.119191525T>C | NCBI36 |
NG_007455.2:g.6715A>G , LRG_493:g.6715A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378204.7:c.942A>G MANE Select | ENSP00000367446.3:p.Arg314= | |
ENST00000436216.2:c.310A>G | ||
ENST00000378204.6:c.942A>G | ENSP00000367446.2:p.Arg314= | |
ENST00000436216.1:c.310A>G | ||
ENST00000437196.1:c.73+869A>G | ENSP00000407299.1:n.73+869A>G | |
NM_000127.2:c.942A>G , LRG_493t1:c.942A>G | NP_000118.2:p.Arg314= | |
NM_000127.3:c.942A>G MANE Select | NP_000118.2:p.Arg314= |