HGVS | Genome Assembly |
---|---|
NC_000015.10:g.59116787A>C , CM000677.2:g.59116787A>C | GRCh38 |
NC_000015.9:g.59408986A>C , CM000677.1:g.59408986A>C | GRCh37 |
NC_000015.8:g.57196278A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288207.7:c.695A>C MANE Select | ENSP00000288207.2:p.Asp232Ala | |
ENST00000288207.6:c.695A>C | ENSP00000288207.2:p.Asp232Ala | |
ENST00000559301.1:n.21A>C | ||
ENST00000559622.5:c.452A>C | ENSP00000453685.1:p.Asp151Ala | |
ENST00000621385.1:c.695A>C | ENSP00000480809.1:p.Asp232Ala | |
NM_004701.3:c.695A>C | NP_004692.1:p.Asp232Ala | |
NM_004701.4:c.695A>C MANE Select | NP_004692.1:p.Asp232Ala |