HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31663863A>C , CM000683.2:g.31663863A>C | GRCh38 |
NC_000021.8:g.33036176A>C , CM000683.1:g.33036176A>C | GRCh37 |
NC_000021.7:g.31958047A>C | NCBI36 |
NG_008689.1:g.9242A>C , LRG_652:g.9242A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.146A>C MANE Select | ENSP00000270142.7:p.His49Pro | |
ENST00000270142.10:c.146A>C | ENSP00000270142.6:p.His49Pro | |
ENST00000389995.4:c.89A>C | ENSP00000374645.4:p.His30Pro | |
ENST00000470944.1:n.1074A>C | ||
ENST00000476106.5:n.409A>C | ||
NM_000454.4:c.146A>C , LRG_652t1:c.146A>C | NP_000445.1:p.His49Pro | |
NM_000454.5:c.146A>C MANE Select | NP_000445.1:p.His49Pro |