HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924242T>G , CM000675.2:g.27924242T>G | GRCh38 |
NC_000013.10:g.28498379T>G , CM000675.1:g.28498379T>G | GRCh37 |
NC_000013.9:g.27396379T>G | NCBI36 |
NG_008183.1:g.9212T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.407-14T>G MANE Select | ENSP00000370421.4:n.407-14T>G | |
ENST00000381033.4:c.407-14T>G | ENSP00000370421.4:n.407-14T>G | |
NM_000209.3:c.407-14T>G | NP_000200.1:n.407-14T>G | |
XR_941578.1:n.3534-14T>G | ||
XR_941579.1:n.2133-14T>G | ||
XR_941580.1:n.1049-14T>G | ||
XR_941578.2:n.3546-14T>G | ||
XR_941580.2:n.1061-14T>G | ||
NM_000209.4:c.407-14T>G MANE Select | NP_000200.1:n.407-14T>G |