HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128349932C>A , CM000667.2:g.128349932C>A | GRCh38 |
NC_000005.9:g.127685624C>A , CM000667.1:g.127685624C>A | GRCh37 |
NC_000005.8:g.127713523C>A | NCBI36 |
NG_008750.1:g.193112G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.2863+23G>T MANE Select | ENSP00000262464.4:n.2863+23G>T | |
ENST00000262464.8:c.2863+23G>T | ENSP00000262464.4:n.2863+23G>T | |
ENST00000508053.5:c.2863+23G>T | ENSP00000424571.1:n.2863+23G>T | |
ENST00000508989.5:c.2764+23G>T | ENSP00000425596.1:n.2764+23G>T | |
ENST00000619499.4:c.2860+23G>T | ENSP00000482132.1:n.2860+23G>T | |
NM_001999.3:c.2863+23G>T | NP_001990.2:n.2863+23G>T | |
XM_017009228.2:c.2710+23G>T | XP_016864717.1:n.2710+23G>T | |
NM_001999.4:c.2863+23G>T MANE Select | NP_001990.2:n.2863+23G>T |