HGVS | Genome Assembly |
---|---|
NC_000006.12:g.123218707T>A , CM000668.2:g.123218707T>A | GRCh38 |
NC_000006.11:g.123539852T>A , CM000668.1:g.123539852T>A | GRCh37 |
NC_000006.10:g.123581551T>A | NCBI36 |
NG_030438.1:g.423387A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334268.9:c.2084A>T MANE Select | ENSP00000333984.5:p.Asp695Val | |
ENST00000334268.8:c.2084A>T | ENSP00000333984.5:p.Asp695Val | |
NM_006073.3:c.2084A>T | NP_006064.2:p.Asp695Val | |
XM_011535382.1:c.2003A>T | XP_011533684.1:p.Asp668Val | |
NM_006073.4:c.2084A>T MANE Select | NP_006064.2:p.Asp695Val |