HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35534023G>C , CM000681.2:g.35534023G>C | GRCh38 |
NC_000019.9:g.36024925G>C , CM000681.1:g.36024925G>C | GRCh37 |
NC_000019.8:g.40716765G>C | NCBI36 |
NG_046898.1:g.5612G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222286.9:c.67+429G>C MANE Select | ENSP00000222286.3:n.67+429G>C | |
ENST00000222286.8:c.67+429G>C | ENSP00000222286.3:n.67+429G>C | |
ENST00000586334.1:c.67+429G>C | ENSP00000466432.1:n.67+429G>C | |
NM_014364.4:c.67+429G>C | NP_055179.1:n.67+429G>C | |
NM_014364.5:c.67+429G>C MANE Select | NP_055179.1:n.67+429G>C |