HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992972G>T , CM000667.2:g.177992972G>T | GRCh38 |
NC_000005.9:g.177419973G>T , CM000667.1:g.177419973G>T | GRCh37 |
NC_000005.8:g.177352579G>T | NCBI36 |
NG_015889.1:g.8271C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.418C>A MANE Select | ENSP00000311290.2:p.Pro140Thr | |
NM_006261.4:c.418C>A | NP_006252.3:p.Pro140Thr | |
NM_006261.5:c.418C>A MANE Select | NP_006252.4:p.Pro140Thr |