HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130205036C= , CM000671.2:g.130205036C= | GRCh38 |
NC_000009.11:g.132967315C= , CM000671.1:g.132967315C= | GRCh37 |
NC_000009.10:g.132007136C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372398.6:c.89+4054C= MANE Select | ENSP00000361475.3:n.89+4054C= | |
ENST00000372398.5:c.89+4054C= | ENSP00000361475.3:n.89+4054C= | |
ENST00000493042.1:n.143+4054C= | ||
ENST00000630865.1:c.35+4054C= | ENSP00000486695.1:n.35+4054C= | |
NM_001128826.1:c.35+4054C= | NP_001122298.1:n.35+4054C= | |
NM_014286.3:c.89+4054C= | NP_055101.2:n.89+4054C= | |
NM_014286.4:c.89+4054C= MANE Select | NP_055101.2:n.89+4054C= | |
NM_001128826.2:c.35+4054C= | NP_001122298.1:n.35+4054C= |