HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395118G= , CM000667.2:g.128395118G= | GRCh38 |
NC_000005.9:g.127730811G= , CM000667.1:g.127730811G= | GRCh37 |
NC_000005.8:g.127758710G= | NCBI36 |
NG_008750.1:g.147925C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703787.1:n.938+4C= | ||
ENST00000262464.9:c.1231+4C= MANE Select | ENSP00000262464.4:n.1231+4C= | |
ENST00000262464.8:c.1231+4C= | ENSP00000262464.4:n.1231+4C= | |
ENST00000508053.5:c.1231+4C= | ENSP00000424571.1:n.1231+4C= | |
ENST00000508989.5:c.1132+4C= | ENSP00000425596.1:n.1132+4C= | |
ENST00000619499.4:c.1228+4C= | ENSP00000482132.1:n.1228+4C= | |
NM_001999.3:c.1231+4C= | NP_001990.2:n.1231+4C= | |
XM_017009228.2:c.1079-1750C= | XP_016864717.1:n.1079-1750C= | |
NM_001999.4:c.1231+4C= MANE Select | NP_001990.2:n.1231+4C= |