HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128312500A= , CM000667.2:g.128312500A= | GRCh38 |
NC_000005.9:g.127648192A= , CM000667.1:g.127648192A= | GRCh37 |
NC_000005.8:g.127676091A= | NCBI36 |
NG_008750.1:g.230544T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.1663+134T= | ||
ENST00000703785.1:n.1583-547T= | ||
ENST00000262464.9:c.4879+134T= MANE Select | ENSP00000262464.4:n.4879+134T= | |
ENST00000262464.8:c.4879+134T= | ENSP00000262464.4:n.4879+134T= | |
ENST00000508053.5:c.4879+134T= | ENSP00000424571.1:n.4879+134T= | |
ENST00000619499.4:c.4876+134T= | ENSP00000482132.1:n.4876+134T= | |
NM_001999.3:c.4879+134T= | NP_001990.2:n.4879+134T= | |
XM_017009228.2:c.4726+134T= | XP_016864717.1:n.4726+134T= | |
NM_001999.4:c.4879+134T= MANE Select | NP_001990.2:n.4879+134T= |