HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55032127G>C , CM000667.2:g.55032127G>C | GRCh38 |
NC_000005.9:g.54327955G>C , CM000667.1:g.54327955G>C | GRCh37 |
NC_000005.8:g.54363712G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231009.3:c.633+494G>C MANE Select | ENSP00000231009.2:n.633+494G>C | |
ENST00000231009.2:c.633+494G>C | ENSP00000231009.2:n.633+494G>C | |
NM_002104.2:c.633+494G>C | NP_002095.1:n.633+494G>C | |
NM_002104.3:c.633+494G>C MANE Select | NP_002095.1:n.633+494G>C |