HGVS | Genome Assembly |
---|---|
NC_000015.10:g.96332364A>G , CM000677.2:g.96332364A>G | GRCh38 |
NC_000015.9:g.96875593A>G , CM000677.1:g.96875593A>G | GRCh37 |
NC_000015.8:g.94676597A>G | NCBI36 |
NG_016753.1:g.11437A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000394166.8:c.259A>G MANE Select | ENSP00000377721.3:p.Ser87Gly | |
ENST00000394166.7:c.259A>G | ENSP00000377721.3:p.Ser87Gly | |
ENST00000421109.6:c.44-1712A>G | ENSP00000401674.2:n.44-1712A>G | |
NM_001145155.1:c.44-1712A>G | NP_001138627.1:n.44-1712A>G | |
NM_021005.3:c.259A>G | NP_066285.1:p.Ser87Gly | |
NM_021005.4:c.259A>G MANE Select | NP_066285.1:p.Ser87Gly | |
NM_001145155.2:c.44-1712A>G | NP_001138627.1:n.44-1712A>G |