HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189004275G>T , CM000664.2:g.189004275G>T | GRCh38 |
NC_000002.11:g.189869001G>T , CM000664.1:g.189869001G>T | GRCh37 |
NC_000002.10:g.189577246G>T | NCBI36 |
NG_007404.1:g.34903G>T , LRG_3:g.34903G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2743G>T | ENSP00000415346.2:p.Gly915Trp | |
ENST00000304636.9:c.2842G>T MANE Select | ENSP00000304408.4:p.Gly948Trp | |
ENST00000304636.7:c.2842G>T | ENSP00000304408.3:p.Gly948Trp | |
ENST00000317840.9:c.2527+1239G>T | ENSP00000315243.6:n.2527+1239G>T | |
NM_000090.3:c.2842G>T , LRG_3t1:c.2842G>T | NP_000081.1:p.Gly948Trp | |
NM_000090.4:c.2842G>T MANE Select | NP_000081.2:p.Gly948Trp |