HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7502629G>C , CM000679.2:g.7502629G>C | GRCh38 |
NC_000017.10:g.7405948G>C , CM000679.1:g.7405948G>C | GRCh37 |
NC_000017.9:g.7346672G>C | NCBI36 |
NG_027747.1:g.23251G>C | |
NG_027747.2:g.23251G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000617998.6:n.3083G>C | ||
ENST00000674977.2:c.2684G>C | ENSP00000502190.2:p.Gly895Ala | |
ENST00000576114.1:n.150G>C | ||
ENST00000617998.4:c.2684G>C | ENSP00000480158.1:p.Gly895Ala | |
ENST00000621442.4:c.2684G>C | ENSP00000483957.1:p.Gly895Ala | |
NM_000937.4:c.2684G>C | NP_000928.1:p.Gly895Ala | |
NM_000937.5:c.2684G>C MANE Select | NP_000928.1:p.Gly895Ala |