HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118110105T>A , CM000670.2:g.118110105T>A | GRCh38 |
NC_000008.10:g.119122344T>A , CM000670.1:g.119122344T>A | GRCh37 |
NC_000008.9:g.119191525T>A | NCBI36 |
NG_007455.2:g.6715A>T , LRG_493:g.6715A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378204.7:c.942A>T MANE Select | ENSP00000367446.3:p.Arg314Ser | |
ENST00000436216.2:c.310A>T | ||
ENST00000378204.6:c.942A>T | ENSP00000367446.2:p.Arg314Ser | |
ENST00000436216.1:c.310A>T | ||
ENST00000437196.1:c.73+869A>T | ENSP00000407299.1:n.73+869A>T | |
NM_000127.2:c.942A>T , LRG_493t1:c.942A>T | NP_000118.2:p.Arg314Ser | |
NM_000127.3:c.942A>T MANE Select | NP_000118.2:p.Arg314Ser |