HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104034619A= , CM000672.2:g.104034619A= | GRCh38 |
NC_000010.10:g.105794377A= , CM000672.1:g.105794377A= | GRCh37 |
NC_000010.9:g.105784367A= | NCBI36 |
NG_007069.1:g.56262T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.3520+2T= | ENSP00000358748.3:n.3520+2T= | |
ENST00000648076.2:c.3766+2T= MANE Select | ENSP00000497653.1:n.3766+2T= | |
ENST00000353479.9:c.3766+2T= | ENSP00000340937.5:n.3766+2T= | |
ENST00000369733.7:c.3520+2T= | ENSP00000358748.3:n.3520+2T= | |
NM_000494.3:c.3766+2T= | NP_000485.3:n.3766+2T= | |
NM_000494.4:c.3766+2T= MANE Select | NP_000485.3:n.3766+2T= |