HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94941828G>T , CM000672.2:g.94941828G>T | GRCh38 |
NC_000010.10:g.96701585G>T , CM000672.1:g.96701585G>T | GRCh37 |
NC_000010.9:g.96691575G>T | NCBI36 |
NG_008385.1:g.8171G>T | |
NG_008385.2:g.8671G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.169-30G>T MANE Select | ENSP00000260682.6:n.169-30G>T | |
ENST00000643112.1:c.169-30G>T | ENSP00000496202.1:n.169-30G>T | |
ENST00000645207.1:n.292G>T | ||
ENST00000260682.6:c.169-30G>T | ENSP00000260682.6:n.169-30G>T | |
ENST00000461906.1:n.194-30G>T | ||
NM_000771.3:c.169-30G>T | NP_000762.2:n.169-30G>T | |
NM_000771.4:c.169-30G>T MANE Select | NP_000762.2:n.169-30G>T |