HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55044036T= , CM000663.2:g.55044036T= | GRCh38 |
NC_000001.10:g.55509709T= , CM000663.1:g.55509709T= | GRCh37 |
NC_000001.9:g.55282297T= | NCBI36 |
NG_009061.1:g.9490T= , LRG_275:g.9490T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.399+2T= | ENSP00000501161.2:n.399+2T= | |
ENST00000710286.1:c.756+2T= | ENSP00000518176.1:n.756+2T= | |
ENST00000673662.1:n.69+2T= | ||
ENST00000673726.1:c.399+2T= | ENSP00000501004.1:n.399+2T= | |
ENST00000673903.1:c.24+2T= | ENSP00000501257.1:n.24+2T= | |
ENST00000302118.5:c.399+2T= MANE Select | ENSP00000303208.5:n.399+2T= | |
NM_174936.3:c.399+2T= , LRG_275t1:c.399+2T= | NP_777596.2:n.399+2T= | |
NR_110451.1:n.182+3633T= | ||
NM_174936.4:c.399+2T= MANE Select | NP_777596.2:n.399+2T= | |
NR_110451.2:n.182+3633T= |