HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228111G>C , CM000679.2:g.66228111G>C | GRCh38 |
NC_000017.10:g.64224229G>C , CM000679.1:g.64224229G>C | GRCh37 |
NC_000017.9:g.61654691G>C | NCBI36 |
NG_012045.1:g.6328C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205948.11:c.150C>G MANE Select | ENSP00000205948.6:p.Ser50= | |
ENST00000205948.10:c.150C>G | ENSP00000205948.6:p.Ser50= | |
ENST00000577982.1:c.150C>G | ENSP00000464301.1:p.Ser50= | |
ENST00000581797.5:c.-31C>G | ENSP00000463553.1:n.-31C>G | |
NM_000042.2:c.150C>G | NP_000033.2:p.Ser50= | |
NM_000042.3:c.150C>G MANE Select | NP_000033.2:p.Ser50= |