HGVS | Genome Assembly |
---|---|
NC_000001.11:g.110064587C>G , CM000663.2:g.110064587C>G | GRCh38 |
NC_000001.10:g.110607209C>G , CM000663.1:g.110607209C>G | GRCh37 |
NC_000001.9:g.110408732C>G | NCBI36 |
NG_012039.1:g.11114G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647563.2:c.594G>C (ALX3) MANE Select | ENSP00000497310.1:p.Gln198His | |
ENST00000649954.1:c.165G>C (ALX3) | ENSP00000497035.1:p.Gln55His | |
ENST00000369792.4:c.594G>C (ALX3) | ENSP00000358807.3:p.Gln198His | |
ENST00000473429.5:n.4214-7868C>G (STRIP1) | ||
NM_006492.2:c.594G>C (ALX3) | NP_006483.2:p.Gln198His | |
NM_006492.3:c.594G>C (ALX3) MANE Select | NP_006483.2:p.Gln198His |