HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94947653G>T , CM000672.2:g.94947653G>T | GRCh38 |
NC_000010.10:g.96707410G>T , CM000672.1:g.96707410G>T | GRCh37 |
NC_000010.9:g.96697400G>T | NCBI36 |
NG_008385.1:g.13996G>T | |
NG_008385.2:g.14496G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.482-126G>T MANE Select | ENSP00000260682.6:n.482-126G>T | |
ENST00000643112.1:c.482-126G>T | ENSP00000496202.1:n.482-126G>T | |
ENST00000645207.1:n.635-126G>T | ||
ENST00000260682.6:c.482-126G>T | ENSP00000260682.6:n.482-126G>T | |
ENST00000473496.1:n.253-126G>T | ||
NM_000771.3:c.482-126G>T | NP_000762.2:n.482-126G>T | |
NM_000771.4:c.482-126G>T MANE Select | NP_000762.2:n.482-126G>T |