HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119099A>T , CM000667.2:g.111119099A>T | GRCh38 |
NC_000005.9:g.110454797A>T , CM000667.1:g.110454797A>T | GRCh37 |
NC_000005.8:g.110482696A>T | NCBI36 |
NG_008979.1:g.31928A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1883A>T MANE Select | ENSP00000424628.3:p.Asp628Val | |
ENST00000506538.6:c.2051A>T | ENSP00000423067.2:p.Asp684Val | |
ENST00000513710.3:c.1883A>T | ENSP00000424628.3:p.Asp628Val | |
ENST00000612402.4:c.2051A>T | ENSP00000479950.1:p.Asp684Val | |
NM_139281.2:c.2051A>T | NP_644810.1:p.Asp684Val | |
XM_011543163.1:c.2051A>T | XP_011541465.1:p.Asp684Val | |
NM_139281.3:c.1883A>T MANE Select | NP_644810.2:p.Asp628Val |