HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344385C>T , CM000667.2:g.128344385C>T | GRCh38 |
NC_000005.9:g.127680077C>T , CM000667.1:g.127680077C>T | GRCh37 |
NC_000005.8:g.127707976C>T | NCBI36 |
NG_008750.1:g.198659G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3343G>A MANE Select | ENSP00000262464.4:p.Asp1115Asn | |
ENST00000262464.8:c.3343G>A | ENSP00000262464.4:p.Asp1115Asn | |
ENST00000508053.5:c.3343G>A | ENSP00000424571.1:p.Asp1115Asn | |
ENST00000508989.5:c.3244G>A | ENSP00000425596.1:p.Asp1082Asn | |
ENST00000619499.4:c.3340G>A | ENSP00000482132.1:p.Asp1114Asn | |
NM_001999.3:c.3343G>A | NP_001990.2:p.Asp1115Asn | |
XM_017009228.2:c.3190G>A | XP_016864717.1:p.Asp1064Asn | |
NM_001999.4:c.3343G>A MANE Select | NP_001990.2:p.Asp1115Asn |