HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357326C>A , CM000667.2:g.128357326C>A | GRCh38 |
NC_000005.9:g.127693018C>A , CM000667.1:g.127693018C>A | GRCh37 |
NC_000005.8:g.127720917C>A | NCBI36 |
NG_008750.1:g.185718G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.2624G>T MANE Select | ENSP00000262464.4:p.Cys875Phe | |
ENST00000262464.8:c.2624G>T | ENSP00000262464.4:p.Cys875Phe | |
ENST00000508053.5:c.2624G>T | ENSP00000424571.1:p.Cys875Phe | |
ENST00000508989.5:c.2525G>T | ENSP00000425596.1:p.Cys842Phe | |
ENST00000619499.4:c.2621G>T | ENSP00000482132.1:p.Cys874Phe | |
NM_001999.3:c.2624G>T | NP_001990.2:p.Cys875Phe | |
XM_017009228.2:c.2471G>T | XP_016864717.1:p.Cys824Phe | |
NM_001999.4:c.2624G>T MANE Select | NP_001990.2:p.Cys875Phe |