HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128261851T>A , CM000667.2:g.128261851T>A | GRCh38 |
NC_000005.9:g.127597543T>A , CM000667.1:g.127597543T>A | GRCh37 |
NC_000005.8:g.127625442T>A | NCBI36 |
NG_008750.1:g.281193A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.8249A>T MANE Select | ENSP00000262464.4:p.Glu2750Val | |
ENST00000262464.8:c.8249A>T | ENSP00000262464.4:p.Glu2750Val | |
ENST00000508053.5:c.8249A>T | ENSP00000424571.1:p.Glu2750Val | |
ENST00000619499.4:c.8246A>T | ENSP00000482132.1:p.Glu2749Val | |
NM_001999.3:c.8249A>T | NP_001990.2:p.Glu2750Val | |
XM_017009228.2:c.8096A>T | XP_016864717.1:p.Glu2699Val | |
NM_001999.4:c.8249A>T MANE Select | NP_001990.2:p.Glu2750Val |