HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172665817C= , CM000663.2:g.172665817C= | GRCh38 |
NC_000001.10:g.172634957C= , CM000663.1:g.172634957C= | GRCh37 |
NC_000001.9:g.170901580C= | NCBI36 |
NG_007269.1:g.11773C= , LRG_58:g.11773C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.647C= MANE Select | ENSP00000356694.2:p.Ser216= | |
ENST00000340030.4:c.*217C= | ENSP00000344739.3:n.*217C= | |
ENST00000367721.2:c.647C= | ENSP00000356694.2:p.Ser216= | |
NM_000639.2:c.647C= | NP_000630.1:p.Ser216= | |
NM_001302746.1:c.*217C= | NP_001289675.1:n.*217C= | |
NM_000639.3:c.647C= MANE Select | NP_000630.1:p.Ser216= | |
NM_001302746.2:c.*217C= | NP_001289675.1:n.*217C= |