HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924249C>A , CM000675.2:g.27924249C>A | GRCh38 |
NC_000013.10:g.28498386C>A , CM000675.1:g.28498386C>A | GRCh37 |
NC_000013.9:g.27396386C>A | NCBI36 |
NG_008183.1:g.9219C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.407-7C>A MANE Select | ENSP00000370421.4:n.407-7C>A | |
ENST00000381033.4:c.407-7C>A | ENSP00000370421.4:n.407-7C>A | |
NM_000209.3:c.407-7C>A | NP_000200.1:n.407-7C>A | |
XR_941578.1:n.3534-7C>A | ||
XR_941579.1:n.2133-7C>A | ||
XR_941580.1:n.1049-7C>A | ||
XR_941578.2:n.3546-7C>A | ||
XR_941580.2:n.1061-7C>A | ||
NM_000209.4:c.407-7C>A MANE Select | NP_000200.1:n.407-7C>A |