HGVS | Genome Assembly |
---|---|
NC_000001.11:g.110064585A>C , CM000663.2:g.110064585A>C | GRCh38 |
NC_000001.10:g.110607207A>C , CM000663.1:g.110607207A>C | GRCh37 |
NC_000001.9:g.110408730A>C | NCBI36 |
NG_012039.1:g.11116T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647563.2:c.594+2T>G (ALX3) MANE Select | ENSP00000497310.1:n.594+2T>G | |
ENST00000649954.1:c.165+2T>G (ALX3) | ENSP00000497035.1:n.165+2T>G | |
ENST00000369792.4:c.594+2T>G (ALX3) | ENSP00000358807.3:n.594+2T>G | |
ENST00000473429.5:n.4214-7870A>C (STRIP1) | ||
NM_006492.2:c.594+2T>G (ALX3) | NP_006483.2:n.594+2T>G | |
NM_006492.3:c.594+2T>G (ALX3) MANE Select | NP_006483.2:n.594+2T>G |