HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058858T>G , CM000664.2:g.189058858T>G | GRCh38 |
NC_000002.11:g.189923584T>G , CM000664.1:g.189923584T>G | GRCh37 |
NC_000002.10:g.189631829T>G | NCBI36 |
NG_011799.1:g.126022A>C | |
NG_011799.2:g.126022A>C | |
NG_011799.3:g.171444A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2121A>C MANE Select | ENSP00000364000.3:p.Leu707Phe | |
ENST00000374866.7:c.2121A>C | ENSP00000364000.3:p.Leu707Phe | |
ENST00000470524.2:n.227A>C | ||
ENST00000618828.1:c.960A>C | ENSP00000482184.1:p.Leu320Phe | |
NM_000393.3:c.2121A>C | NP_000384.2:p.Leu707Phe | |
XM_011510573.1:c.1983A>C | XP_011508875.1:p.Leu661Phe | |
NM_000393.4:c.2121A>C | NP_000384.2:p.Leu707Phe | |
XM_011510573.3:c.1983A>C | XP_011508875.1:p.Leu661Phe | |
NM_000393.5:c.2121A>C MANE Select | NP_000384.2:p.Leu707Phe |