HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189010690G>T , CM000664.2:g.189010690G>T | GRCh38 |
NC_000002.11:g.189875416G>T , CM000664.1:g.189875416G>T | GRCh37 |
NC_000002.10:g.189583661G>T | NCBI36 |
NG_007404.1:g.41318G>T , LRG_3:g.41318G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.3955G>T | ENSP00000415346.2:p.Val1319Leu | |
ENST00000304636.9:c.4054G>T MANE Select | ENSP00000304408.4:p.Val1352Leu | |
ENST00000304636.7:c.4054G>T | ENSP00000304408.3:p.Val1352Leu | |
ENST00000317840.9:c.3145G>T | ENSP00000315243.6:p.Val1049Leu | |
ENST00000487010.1:n.1433G>T | ||
NM_000090.3:c.4054G>T , LRG_3t1:c.4054G>T | NP_000081.1:p.Val1352Leu | |
NM_000090.4:c.4054G>T MANE Select | NP_000081.2:p.Val1352Leu |