HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94974411G>T , CM000672.2:g.94974411G>T | GRCh38 |
NC_000010.10:g.96734168G>T , CM000672.1:g.96734168G>T | GRCh37 |
NC_000010.9:g.96724158G>T | NCBI36 |
NG_008385.1:g.40754G>T | |
NG_008385.2:g.41254G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.961+2166G>T MANE Select | ENSP00000260682.6:n.961+2166G>T | |
ENST00000643112.1:c.820-6772G>T | ENSP00000496202.1:n.820-6772G>T | |
ENST00000260682.6:c.961+2166G>T | ENSP00000260682.6:n.961+2166G>T | |
NM_000771.3:c.961+2166G>T | NP_000762.2:n.961+2166G>T | |
NM_000771.4:c.961+2166G>T MANE Select | NP_000762.2:n.961+2166G>T |