HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13974561G>C , CM000673.2:g.13974561G>C | GRCh38 |
NC_000011.9:g.13996108G>C , CM000673.1:g.13996108G>C | GRCh37 |
NC_000011.8:g.13952684G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000576479.4:c.239-8286G>C MANE Select | ENSP00000460236.1:n.239-8286G>C | |
ENST00000576479.3:c.239-8286G>C | ENSP00000460236.1:n.239-8286G>C | |
NM_006108.3:c.239-8286G>C | NP_006099.2:n.239-8286G>C | |
NM_006108.4:c.239-8286G>C MANE Select | NP_006099.2:n.239-8286G>C |