HGVS | Genome Assembly |
---|---|
NC_000014.9:g.67725108T>A , CM000676.2:g.67725108T>A | GRCh38 |
NC_000014.8:g.68191825T>A , CM000676.1:g.68191825T>A | GRCh37 |
NC_000014.7:g.67261578T>A | NCBI36 |
NG_008321.1:g.28223T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551171.6:c.197T>A (RDH12) MANE Select | ENSP00000449079.1:p.Val66Asp | |
ENST00000267502.3:c.197T>A (RDH12) | ENSP00000267502.3:p.Val66Asp | |
ENST00000551171.5:c.197T>A (RDH12) | ENSP00000449079.1:p.Val66Asp | |
NM_152443.2:c.197T>A (RDH12) | NP_689656.2:p.Val66Asp | |
XM_017020925.2:c.1313-10087T>A (GPHN) | XP_016876414.1:n.1313-10087T>A | |
NM_152443.3:c.197T>A (RDH12) MANE Select | NP_689656.2:p.Val66Asp |