HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2285569G= , CM000678.2:g.2285569G= | GRCh38 |
NC_000016.9:g.2335570G= , CM000678.1:g.2335570G= | GRCh37 |
NC_000016.8:g.2275571G= | NCBI36 |
NG_011790.1:g.60178C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.3356C= MANE Select | ENSP00000301732.5:p.Ala1119= | |
ENST00000301732.9:c.3356C= | ENSP00000301732.5:p.Ala1119= | |
ENST00000382381.7:c.3182C= | ENSP00000371818.3:p.Ala1061= | |
NM_001089.2:c.3356C= | NP_001080.2:p.Ala1119= | |
NM_001089.3:c.3356C= MANE Select | NP_001080.2:p.Ala1119= |