HGVS | Genome Assembly |
---|---|
NC_000001.11:g.110064557C>T , CM000663.2:g.110064557C>T | GRCh38 |
NC_000001.10:g.110607179C>T , CM000663.1:g.110607179C>T | GRCh37 |
NC_000001.9:g.110408702C>T | NCBI36 |
NG_012039.1:g.11144G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647563.2:c.594+30G>A (ALX3) MANE Select | ENSP00000497310.1:n.594+30G>A | |
ENST00000649954.1:c.165+30G>A (ALX3) | ENSP00000497035.1:n.165+30G>A | |
ENST00000369792.4:c.594+30G>A (ALX3) | ENSP00000358807.3:n.594+30G>A | |
ENST00000473429.5:n.4214-7898C>T (STRIP1) | ||
NM_006492.2:c.594+30G>A (ALX3) | NP_006483.2:n.594+30G>A | |
NM_006492.3:c.594+30G>A (ALX3) MANE Select | NP_006483.2:n.594+30G>A |