HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56594627A>C , CM000679.2:g.56594627A>C | GRCh38 |
NC_000017.10:g.54671988A>C , CM000679.1:g.54671988A>C | GRCh37 |
NC_000017.9:g.52026987A>C | NCBI36 |
NG_011958.1:g.5929A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.404A>C MANE Select | ENSP00000328181.4:p.Gln135Pro | |
ENST00000332822.4:c.404A>C | ENSP00000328181.4:p.Gln135Pro | |
NM_005450.4:c.404A>C | NP_005441.1:p.Gln135Pro | |
NM_005450.6:c.404A>C MANE Select | NP_005441.1:p.Gln135Pro |