HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992812T>G , CM000667.2:g.177992812T>G | GRCh38 |
NC_000005.9:g.177419813T>G , CM000667.1:g.177419813T>G | GRCh37 |
NC_000005.8:g.177352419T>G | NCBI36 |
NG_015889.1:g.8431A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.578A>C MANE Select | ENSP00000311290.2:p.Asp193Ala | |
NM_006261.4:c.578A>C | NP_006252.3:p.Asp193Ala | |
NM_006261.5:c.578A>C MANE Select | NP_006252.4:p.Asp193Ala |