HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177993025G>T , CM000667.2:g.177993025G>T | GRCh38 |
NC_000005.9:g.177420026G>T , CM000667.1:g.177420026G>T | GRCh37 |
NC_000005.8:g.177352632G>T | NCBI36 |
NG_015889.1:g.8218C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.365C>A MANE Select | ENSP00000311290.2:p.Ala122Asp | |
NM_006261.4:c.365C>A | NP_006252.3:p.Ala122Asp | |
NM_006261.5:c.365C>A MANE Select | NP_006252.4:p.Ala122Asp |