HGVS | Genome Assembly |
---|---|
NC_000001.11:g.110061460A>T , CM000663.2:g.110061460A>T | GRCh38 |
NC_000001.10:g.110604082A>T , CM000663.1:g.110604082A>T | GRCh37 |
NC_000001.9:g.110405605A>T | NCBI36 |
NG_012039.1:g.14241T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647563.2:c.698T>A (ALX3) MANE Select | ENSP00000497310.1:p.Leu233Gln | |
ENST00000649954.1:c.269T>A (ALX3) | ENSP00000497035.1:p.Leu90Gln | |
ENST00000369792.4:c.698T>A (ALX3) | ENSP00000358807.3:p.Leu233Gln | |
ENST00000473429.5:n.4213+6658A>T (STRIP1) | ||
NM_006492.2:c.698T>A (ALX3) | NP_006483.2:p.Leu233Gln | |
NM_006492.3:c.698T>A (ALX3) MANE Select | NP_006483.2:p.Leu233Gln |