HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304652A>T , CM000685.2:g.30304652A>T | GRCh38 |
NC_000023.10:g.30322769A>T , CM000685.1:g.30322769A>T | GRCh37 |
NC_000023.9:g.30232690A>T | NCBI36 |
NG_009814.1:g.9727T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1340T>A MANE Select | ENSP00000368253.4:p.Leu447Gln | |
ENST00000378970.4:c.1340T>A | ENSP00000368253.4:p.Leu447Gln | |
NM_000475.4:c.1340T>A | NP_000466.2:p.Leu447Gln | |
NM_000475.5:c.1340T>A MANE Select | NP_000466.2:p.Leu447Gln |