HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189004275G>A , CM000664.2:g.189004275G>A | GRCh38 |
NC_000002.11:g.189869001G>A , CM000664.1:g.189869001G>A | GRCh37 |
NC_000002.10:g.189577246G>A | NCBI36 |
NG_007404.1:g.34903G>A , LRG_3:g.34903G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2743G>A | ENSP00000415346.2:p.Gly915Arg | |
ENST00000304636.9:c.2842G>A MANE Select | ENSP00000304408.4:p.Gly948Arg | |
ENST00000304636.7:c.2842G>A | ENSP00000304408.3:p.Gly948Arg | |
ENST00000317840.9:c.2527+1239G>A | ENSP00000315243.6:n.2527+1239G>A | |
NM_000090.3:c.2842G>A , LRG_3t1:c.2842G>A | NP_000081.1:p.Gly948Arg | |
NM_000090.4:c.2842G>A MANE Select | NP_000081.2:p.Gly948Arg |