HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344408T>A , CM000667.2:g.128344408T>A | GRCh38 |
NC_000005.9:g.127680100T>A , CM000667.1:g.127680100T>A | GRCh37 |
NC_000005.8:g.127707999T>A | NCBI36 |
NG_008750.1:g.198636A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.3320A>T MANE Select | ENSP00000262464.4:p.Asp1107Val | |
ENST00000262464.8:c.3320A>T | ENSP00000262464.4:p.Asp1107Val | |
ENST00000508053.5:c.3320A>T | ENSP00000424571.1:p.Asp1107Val | |
ENST00000508989.5:c.3221A>T | ENSP00000425596.1:p.Asp1074Val | |
ENST00000619499.4:c.3317A>T | ENSP00000482132.1:p.Asp1106Val | |
NM_001999.3:c.3320A>T | NP_001990.2:p.Asp1107Val | |
XM_017009228.2:c.3167A>T | XP_016864717.1:p.Asp1056Val | |
NM_001999.4:c.3320A>T MANE Select | NP_001990.2:p.Asp1107Val |