HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94947645T>C , CM000672.2:g.94947645T>C | GRCh38 |
NC_000010.10:g.96707402T>C , CM000672.1:g.96707402T>C | GRCh37 |
NC_000010.9:g.96697392T>C | NCBI36 |
NG_008385.1:g.13988T>C | |
NG_008385.2:g.14488T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.482-134T>C MANE Select | ENSP00000260682.6:n.482-134T>C | |
ENST00000643112.1:c.482-134T>C | ENSP00000496202.1:n.482-134T>C | |
ENST00000645207.1:n.635-134T>C | ||
ENST00000260682.6:c.482-134T>C | ENSP00000260682.6:n.482-134T>C | |
ENST00000473496.1:n.253-134T>C | ||
NM_000771.3:c.482-134T>C | NP_000762.2:n.482-134T>C | |
NM_000771.4:c.482-134T>C MANE Select | NP_000762.2:n.482-134T>C |