HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304653G>A , CM000685.2:g.30304653G>A | GRCh38 |
NC_000023.10:g.30322770G>A , CM000685.1:g.30322770G>A | GRCh37 |
NC_000023.9:g.30232691G>A | NCBI36 |
NG_009814.1:g.9726C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1339C>T MANE Select | ENSP00000368253.4:p.Leu447= | |
ENST00000378970.4:c.1339C>T | ENSP00000368253.4:p.Leu447= | |
NM_000475.4:c.1339C>T | NP_000466.2:p.Leu447= | |
NM_000475.5:c.1339C>T MANE Select | NP_000466.2:p.Leu447= |