HGVS | Genome Assembly |
---|---|
NC_000001.11:g.110064594C>A , CM000663.2:g.110064594C>A | GRCh38 |
NC_000001.10:g.110607216C>A , CM000663.1:g.110607216C>A | GRCh37 |
NC_000001.9:g.110408739C>A | NCBI36 |
NG_012039.1:g.11107G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647563.2:c.587G>T (ALX3) MANE Select | ENSP00000497310.1:p.Arg196Leu | |
ENST00000649954.1:c.158G>T (ALX3) | ENSP00000497035.1:p.Arg53Leu | |
ENST00000369792.4:c.587G>T (ALX3) | ENSP00000358807.3:p.Arg196Leu | |
ENST00000473429.5:n.4214-7861C>A (STRIP1) | ||
NM_006492.2:c.587G>T (ALX3) | NP_006483.2:p.Arg196Leu | |
NM_006492.3:c.587G>T (ALX3) MANE Select | NP_006483.2:p.Arg196Leu |