HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119941633G>C , CM000670.2:g.119941633G>C | GRCh38 |
NC_000008.10:g.120953873G>C , CM000670.1:g.120953873G>C | GRCh37 |
NC_000008.9:g.121023054G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286234.6:c.425+11695G>C MANE Select | ENSP00000286234.5:n.425+11695G>C | |
ENST00000286234.5:c.425+11695G>C | ENSP00000286234.5:n.425+11695G>C | |
ENST00000523492.5:c.123-23599G>C | ENSP00000430457.1:n.123-23599G>C | |
NM_001283012.1:c.123-23599G>C | NP_001269941.1:n.123-23599G>C | |
NM_022783.3:c.425+11695G>C | NP_073620.2:n.425+11695G>C | |
NM_022783.4:c.425+11695G>C MANE Select | NP_073620.2:n.425+11695G>C | |
NM_001283012.2:c.123-23599G>C | NP_001269941.1:n.123-23599G>C |