HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308318G= , CM000685.2:g.30308318G= | GRCh38 |
NC_000023.10:g.30326435G= , CM000685.1:g.30326435G= | GRCh37 |
NC_000023.9:g.30236356G= | NCBI36 |
NG_009814.1:g.6061C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1046C= MANE Select | ENSP00000368253.4:p.Ala349= | |
ENST00000378963.1:c.161C= | ENSP00000368246.1:p.Ala54= | |
ENST00000378970.4:c.1046C= | ENSP00000368253.4:p.Ala349= | |
NM_000475.4:c.1046C= | NP_000466.2:p.Ala349= | |
NM_000475.5:c.1046C= MANE Select | NP_000466.2:p.Ala349= |