HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304662T>G , CM000685.2:g.30304662T>G | GRCh38 |
NC_000023.10:g.30322779T>G , CM000685.1:g.30322779T>G | GRCh37 |
NC_000023.9:g.30232700T>G | NCBI36 |
NG_009814.1:g.9717A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1330A>C MANE Select | ENSP00000368253.4:p.Ile444Leu | |
ENST00000378970.4:c.1330A>C | ENSP00000368253.4:p.Ile444Leu | |
NM_000475.4:c.1330A>C | NP_000466.2:p.Ile444Leu | |
NM_000475.5:c.1330A>C MANE Select | NP_000466.2:p.Ile444Leu |