HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862585G>C , CM000666.2:g.4862585G>C | GRCh38 |
NC_000004.11:g.4864312G>C , CM000666.1:g.4864312G>C | GRCh37 |
NC_000004.10:g.4915213G>C | NCBI36 |
NG_008121.1:g.7921G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.470-116G>C MANE Select | ENSP00000372170.4:n.470-116G>C | |
ENST00000382723.4:c.470-116G>C | ENSP00000372170.4:n.470-116G>C | |
ENST00000468421.1:n.158G>C | ||
NM_002448.3:c.470-116G>C MANE Select | NP_002439.2:n.470-116G>C |