HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23375706A>G , CM000676.2:g.23375706A>G | GRCh38 |
NC_000014.8:g.23844915A>G , CM000676.1:g.23844915A>G | GRCh37 |
NC_000014.7:g.22914755A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397242.3:c.312A>G MANE Select | ENSP00000380417.2:p.Thr104= | |
ENST00000329715.2:c.360A>G | ENSP00000328111.2:p.Thr120= | |
ENST00000397242.2:c.312A>G | ENSP00000380417.2:p.Thr104= | |
NM_022789.3:c.360A>G | NP_073626.1:p.Thr120= | |
NM_172314.1:c.312A>G | NP_758525.1:p.Thr104= |