HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177993000T>G , CM000667.2:g.177993000T>G | GRCh38 |
NC_000005.9:g.177420001T>G , CM000667.1:g.177420001T>G | GRCh37 |
NC_000005.8:g.177352607T>G | NCBI36 |
NG_015889.1:g.8243A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000308304.2:c.390A>C MANE Select | ENSP00000311290.2:p.Ser130= | |
NM_006261.4:c.390A>C | NP_006252.3:p.Ser130= | |
NM_006261.5:c.390A>C MANE Select | NP_006252.4:p.Ser130= |