HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118110095C>T , CM000670.2:g.118110095C>T | GRCh38 |
NC_000008.10:g.119122334C>T , CM000670.1:g.119122334C>T | GRCh37 |
NC_000008.9:g.119191515C>T | NCBI36 |
NG_007455.2:g.6725G>A , LRG_493:g.6725G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378204.7:c.952G>A MANE Select | ENSP00000367446.3:p.Glu318Lys | |
ENST00000436216.2:c.320G>A | ||
ENST00000378204.6:c.952G>A | ENSP00000367446.2:p.Glu318Lys | |
ENST00000436216.1:c.320G>A | ||
ENST00000437196.1:c.73+879G>A | ENSP00000407299.1:n.73+879G>A | |
NM_000127.2:c.952G>A , LRG_493t1:c.952G>A | NP_000118.2:p.Glu318Lys | |
NM_000127.3:c.952G>A MANE Select | NP_000118.2:p.Glu318Lys |