HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992882G>T , CM000667.2:g.177992882G>T | GRCh38 |
NC_000005.9:g.177419883G>T , CM000667.1:g.177419883G>T | GRCh37 |
NC_000005.8:g.177352489G>T | NCBI36 |
NG_015889.1:g.8361C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.508C>A MANE Select | ENSP00000311290.2:p.Pro170Thr | |
NM_006261.4:c.508C>A | NP_006252.3:p.Pro170Thr | |
NM_006261.5:c.508C>A MANE Select | NP_006252.4:p.Pro170Thr |