HGVS | Genome Assembly |
---|---|
NC_000015.10:g.96332365G>C , CM000677.2:g.96332365G>C | GRCh38 |
NC_000015.9:g.96875594G>C , CM000677.1:g.96875594G>C | GRCh37 |
NC_000015.8:g.94676598G>C | NCBI36 |
NG_016753.1:g.11438G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000394166.8:c.260G>C MANE Select | ENSP00000377721.3:p.Ser87Thr | |
ENST00000394166.7:c.260G>C | ENSP00000377721.3:p.Ser87Thr | |
ENST00000421109.6:c.44-1711G>C | ENSP00000401674.2:n.44-1711G>C | |
NM_001145155.1:c.44-1711G>C | NP_001138627.1:n.44-1711G>C | |
NM_021005.3:c.260G>C | NP_066285.1:p.Ser87Thr | |
NM_021005.4:c.260G>C MANE Select | NP_066285.1:p.Ser87Thr | |
NM_001145155.2:c.44-1711G>C | NP_001138627.1:n.44-1711G>C |