HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73914845A>C , CM000664.2:g.73914845A>C | GRCh38 |
NC_000002.11:g.74141972A>C , CM000664.1:g.74141972A>C | GRCh37 |
NC_000002.10:g.73995480A>C | NCBI36 |
NG_034140.1:g.26880A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000345517.8:c.779A>C MANE Select | ENSP00000295137.3:p.Glu260Ala | |
ENST00000345517.7:c.779A>C | ENSP00000295137.3:p.Glu260Ala | |
ENST00000409624.1:c.779A>C | ENSP00000386857.1:p.Glu260Ala | |
ENST00000409731.7:c.650A>C | ENSP00000386929.3:p.Glu217Ala | |
ENST00000438902.6:c.*844A>C | ENSP00000410706.2:n.*844A>C | |
NM_001199893.1:c.650A>C | NP_001186822.1:p.Glu217Ala | |
NM_001615.3:c.779A>C | NP_001606.1:p.Glu260Ala | |
NM_001199893.2:c.650A>C | NP_001186822.1:p.Glu217Ala | |
NM_001615.4:c.779A>C MANE Select | NP_001606.1:p.Glu260Ala |