HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35848039A= , CM000681.2:g.35848039A= | GRCh38 |
NC_000019.9:g.36338941A= , CM000681.1:g.36338941A= | GRCh37 |
NC_000019.8:g.41030781A= | NCBI36 |
NG_013356.2:g.26249T= , LRG_693:g.26249T= | |
NG_051206.1:g.1405A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.1440+2T= MANE Select | ENSP00000368190.4:n.1440+2T= | |
ENST00000353632.6:c.1440+2T= | ENSP00000343634.5:n.1440+2T= | |
ENST00000378910.9:c.1440+2T= | ENSP00000368190.4:n.1440+2T= | |
ENST00000592132.1:n.449T= | ||
NM_004646.3:c.1440+2T= , LRG_693t1:c.1440+2T= | NP_004637.1:n.1440+2T= | |
NM_004646.4:c.1440+2T= MANE Select | NP_004637.1:n.1440+2T= |