HGVS | Genome Assembly |
---|---|
NC_000014.9:g.67725206C>G , CM000676.2:g.67725206C>G | GRCh38 |
NC_000014.8:g.68191923C>G , CM000676.1:g.68191923C>G | GRCh37 |
NC_000014.7:g.67261676C>G | NCBI36 |
NG_008321.1:g.28321C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551171.6:c.295C>G (RDH12) MANE Select | ENSP00000449079.1:p.Leu99Val | |
ENST00000267502.3:c.295C>G (RDH12) | ENSP00000267502.3:p.Leu99Val | |
ENST00000551171.5:c.295C>G (RDH12) | ENSP00000449079.1:p.Leu99Val | |
NM_152443.2:c.295C>G (RDH12) | NP_689656.2:p.Leu99Val | |
XM_017020925.2:c.1313-9989C>G (GPHN) | XP_016876414.1:n.1313-9989C>G | |
NM_152443.3:c.295C>G (RDH12) MANE Select | NP_689656.2:p.Leu99Val |