HGVS | Genome Assembly |
---|---|
NC_000014.9:g.67725107G>T , CM000676.2:g.67725107G>T | GRCh38 |
NC_000014.8:g.68191824G>T , CM000676.1:g.68191824G>T | GRCh37 |
NC_000014.7:g.67261577G>T | NCBI36 |
NG_008321.1:g.28222G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551171.6:c.196G>T (RDH12) MANE Select | ENSP00000449079.1:p.Val66Phe | |
ENST00000267502.3:c.196G>T (RDH12) | ENSP00000267502.3:p.Val66Phe | |
ENST00000551171.5:c.196G>T (RDH12) | ENSP00000449079.1:p.Val66Phe | |
NM_152443.2:c.196G>T (RDH12) | NP_689656.2:p.Val66Phe | |
XM_017020925.2:c.1313-10088G>T (GPHN) | XP_016876414.1:n.1313-10088G>T | |
NM_152443.3:c.196G>T (RDH12) MANE Select | NP_689656.2:p.Val66Phe |