HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49451617A>C , CM000668.2:g.49451617A>C | GRCh38 |
NC_000006.11:g.49419330A>C , CM000668.1:g.49419330A>C | GRCh37 |
NC_000006.10:g.49527289A>C | NCBI36 |
NG_007100.1:g.16523T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.1181T>G MANE Select | ENSP00000274813.3:p.Leu394Trp | |
ENST00000274813.3:c.1181T>G | ENSP00000274813.3:p.Leu394Trp | |
NM_000255.3:c.1181T>G | NP_000246.2:p.Leu394Trp | |
XM_005249143.2:c.1181T>G | XP_005249200.1:p.Leu394Trp | |
XM_005249143.3:c.1181T>G | XP_005249200.1:p.Leu394Trp | |
NM_000255.4:c.1181T>G MANE Select | NP_000246.2:p.Leu394Trp |