HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23434078A= , CM000676.2:g.23434078A= | GRCh38 |
NC_000014.8:g.23903287A= , CM000676.1:g.23903287A= | GRCh37 |
NC_000014.7:g.22973127A= | NCBI36 |
NG_007884.1:g.6584T= , LRG_384:g.6584T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.-9+116T= MANE Select | ENSP00000347507.3:n.-9+116T= | |
ENST00000355349.3:c.-9+116T= | ENSP00000347507.3:n.-9+116T= | |
NM_000257.3:c.-9+116T= | NP_000248.2:n.-9+116T= | |
XR_245686.3:n.98+116T= | ||
XM_017021340.1:c.-8-338T= | XP_016876829.1:n.-8-338T= | |
NM_000257.4:c.-9+116T= MANE Select | NP_000248.2:n.-9+116T= |