HGVS | Genome Assembly |
---|---|
NC_000014.9:g.67725129T>A , CM000676.2:g.67725129T>A | GRCh38 |
NC_000014.8:g.68191846T>A , CM000676.1:g.68191846T>A | GRCh37 |
NC_000014.7:g.67261599T>A | NCBI36 |
NG_008321.1:g.28244T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000551171.6:c.218T>A (RDH12) MANE Select | ENSP00000449079.1:p.Val73Glu | |
ENST00000267502.3:c.218T>A (RDH12) | ENSP00000267502.3:p.Val73Glu | |
ENST00000551171.5:c.218T>A (RDH12) | ENSP00000449079.1:p.Val73Glu | |
NM_152443.2:c.218T>A (RDH12) | NP_689656.2:p.Val73Glu | |
XM_017020925.2:c.1313-10066T>A (GPHN) | XP_016876414.1:n.1313-10066T>A | |
NM_152443.3:c.218T>A (RDH12) MANE Select | NP_689656.2:p.Val73Glu |