HGVS | Genome Assembly |
---|---|
NC_000014.9:g.67725213A>T , CM000676.2:g.67725213A>T | GRCh38 |
NC_000014.8:g.68191930A>T , CM000676.1:g.68191930A>T | GRCh37 |
NC_000014.7:g.67261683A>T | NCBI36 |
NG_008321.1:g.28328A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551171.6:c.302A>T (RDH12) MANE Select | ENSP00000449079.1:p.Asp101Val | |
ENST00000267502.3:c.302A>T (RDH12) | ENSP00000267502.3:p.Asp101Val | |
ENST00000551171.5:c.302A>T (RDH12) | ENSP00000449079.1:p.Asp101Val | |
NM_152443.2:c.302A>T (RDH12) | NP_689656.2:p.Asp101Val | |
XM_017020925.2:c.1313-9982A>T (GPHN) | XP_016876414.1:n.1313-9982A>T | |
NM_152443.3:c.302A>T (RDH12) MANE Select | NP_689656.2:p.Asp101Val |