HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21864573G>C , CM000669.2:g.21864573G>C | GRCh38 |
NC_000007.13:g.21904191G>C , CM000669.1:g.21904191G>C | GRCh37 |
NC_000007.12:g.21870716G>C | NCBI36 |
NG_012886.2:g.326359G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.11412G>C MANE Select | ENSP00000475939.1:p.Leu3804Phe | |
ENST00000328843.10:c.11433G>C | ENSP00000330671.7:p.Leu3811Phe | |
ENST00000409508.7:c.11412G>C | ENSP00000475939.1:p.Leu3804Phe | |
ENST00000620169.4:c.11433G>C | ENSP00000481693.1:p.Leu3811Phe | |
NM_001277115.1:c.11412G>C | NP_001264044.1:p.Leu3804Phe | |
NM_001277115.2:c.11412G>C MANE Select | NP_001264044.1:p.Leu3804Phe |