HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3084516C>G , CM000682.2:g.3084516C>G | GRCh38 |
NC_000020.10:g.3065162C>G , CM000682.1:g.3065162C>G | GRCh37 |
NC_000020.9:g.3013162C>G | NCBI36 |
NG_008663.1:g.5209G>C , LRG_715:g.5209G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000380293.3:c.120+39G>C MANE Select | ENSP00000369647.3:n.120+39G>C | |
NM_000490.4:c.120+39G>C , LRG_715t1:c.120+39G>C | NP_000481.2:n.120+39G>C | |
XM_011529267.1:c.120+39G>C | XP_011527569.1:n.120+39G>C | |
XM_011529267.2:c.120+39G>C | XP_011527569.1:n.120+39G>C | |
NM_000490.5:c.120+39G>C MANE Select | NP_000481.2:n.120+39G>C |