HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228193C>T , CM000679.2:g.66228193C>T | GRCh38 |
NC_000017.10:g.64224311C>T , CM000679.1:g.64224311C>T | GRCh37 |
NC_000017.9:g.61654773C>T | NCBI36 |
NG_012045.1:g.6246G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205948.11:c.68G>A MANE Select | ENSP00000205948.6:p.Cys23Tyr | |
ENST00000205948.10:c.68G>A | ENSP00000205948.6:p.Cys23Tyr | |
ENST00000577982.1:c.68G>A | ENSP00000464301.1:p.Cys23Tyr | |
ENST00000581797.5:c.-113G>A | ENSP00000463553.1:n.-113G>A | |
NM_000042.2:c.68G>A | NP_000033.2:p.Cys23Tyr | |
NM_000042.3:c.68G>A MANE Select | NP_000033.2:p.Cys23Tyr |