HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94007567C>T , CM000663.2:g.94007567C>T | GRCh38 |
NC_000001.10:g.94473123C>T , CM000663.1:g.94473123C>T | GRCh37 |
NC_000001.9:g.94245711C>T | NCBI36 |
NG_009073.1:g.118583G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.6005+67G>A MANE Select | ENSP00000359245.3:n.6005+67G>A | |
ENST00000370225.3:c.6005+67G>A | ENSP00000359245.3:n.6005+67G>A | |
ENST00000465352.1:n.421+67G>A | ||
ENST00000484388.1:n.119+67G>A | ||
ENST00000536513.5:c.2381+67G>A | ENSP00000439707.2:n.2381+67G>A | |
NM_000350.2:c.6005+67G>A | NP_000341.2:n.6005+67G>A | |
NM_000350.3:c.6005+67G>A MANE Select | NP_000341.2:n.6005+67G>A |