HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344396C>T , CM000667.2:g.128344396C>T | GRCh38 |
NC_000005.9:g.127680088C>T , CM000667.1:g.127680088C>T | GRCh37 |
NC_000005.8:g.127707987C>T | NCBI36 |
NG_008750.1:g.198648G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3332G>A MANE Select | ENSP00000262464.4:p.Arg1111Lys | |
ENST00000262464.8:c.3332G>A | ENSP00000262464.4:p.Arg1111Lys | |
ENST00000508053.5:c.3332G>A | ENSP00000424571.1:p.Arg1111Lys | |
ENST00000508989.5:c.3233G>A | ENSP00000425596.1:p.Arg1078Lys | |
ENST00000619499.4:c.3329G>A | ENSP00000482132.1:p.Arg1110Lys | |
NM_001999.3:c.3332G>A | NP_001990.2:p.Arg1111Lys | |
XM_017009228.2:c.3179G>A | XP_016864717.1:p.Arg1060Lys | |
NM_001999.4:c.3332G>A MANE Select | NP_001990.2:p.Arg1111Lys |