HGVS | Genome Assembly |
---|---|
NC_000001.11:g.110064592C>A , CM000663.2:g.110064592C>A | GRCh38 |
NC_000001.10:g.110607214C>A , CM000663.1:g.110607214C>A | GRCh37 |
NC_000001.9:g.110408737C>A | NCBI36 |
NG_012039.1:g.11109G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647563.2:c.589G>T (ALX3) MANE Select | ENSP00000497310.1:p.Val197Leu | |
ENST00000649954.1:c.160G>T (ALX3) | ENSP00000497035.1:p.Val54Leu | |
ENST00000369792.4:c.589G>T (ALX3) | ENSP00000358807.3:p.Val197Leu | |
ENST00000473429.5:n.4214-7863C>A (STRIP1) | ||
NM_006492.2:c.589G>T (ALX3) | NP_006483.2:p.Val197Leu | |
NM_006492.3:c.589G>T (ALX3) MANE Select | NP_006483.2:p.Val197Leu |