HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115731089T= , CM000663.2:g.115731089T= | GRCh38 |
NC_000001.10:g.116273710T= , CM000663.1:g.116273710T= | GRCh37 |
NC_000001.9:g.116075233T= | NCBI36 |
NG_008802.1:g.42717A= , LRG_404:g.42717A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.425+1025A= | ENSP00000518226.1:n.425+1025A= | |
ENST00000261448.6:c.606+1812A= MANE Select | ENSP00000261448.5:n.606+1812A= | |
ENST00000261448.5:c.606+1812A= | ENSP00000261448.5:n.606+1812A= | |
ENST00000488931.1:n.122+1025A= | ||
NM_001232.3:c.606+1812A= , LRG_404t1:c.606+1812A= | NP_001223.2:n.606+1812A= | |
NM_001232.4:c.606+1812A= MANE Select | NP_001223.2:n.606+1812A= |