HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228053C>G , CM000679.2:g.66228053C>G | GRCh38 |
NC_000017.10:g.64224171C>G , CM000679.1:g.64224171C>G | GRCh37 |
NC_000017.9:g.61654633C>G | NCBI36 |
NG_012045.1:g.6386G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000205948.11:c.208G>C MANE Select | ENSP00000205948.6:p.Gly70Arg | |
ENST00000205948.10:c.208G>C | ENSP00000205948.6:p.Gly70Arg | |
ENST00000577982.1:c.208G>C | ENSP00000464301.1:p.Gly70Arg | |
ENST00000581797.5:c.28G>C | ENSP00000463553.1:p.Gly10Arg | |
NM_000042.2:c.208G>C | NP_000033.2:p.Gly70Arg | |
NM_000042.3:c.208G>C MANE Select | NP_000033.2:p.Gly70Arg |