HGVS | Genome Assembly |
---|---|
NC_000016.10:g.25933253A>C , CM000678.2:g.25933253A>C | GRCh38 |
NC_000016.9:g.25944574A>C , CM000678.1:g.25944574A>C | GRCh37 |
NC_000016.8:g.25852075A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331351.6:c.735-202359A>C MANE Select | ENSP00000330606.5:n.735-202359A>C | |
ENST00000331351.5:c.735-202359A>C | ENSP00000330606.5:n.735-202359A>C | |
ENST00000475436.1:n.176+46332A>C | ||
NM_006040.2:c.735-202359A>C | NP_006031.2:n.735-202359A>C | |
NM_006040.3:c.735-202359A>C MANE Select | NP_006031.2:n.735-202359A>C |