HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23434077G>T , CM000676.2:g.23434077G>T | GRCh38 |
NC_000014.8:g.23903286G>T , CM000676.1:g.23903286G>T | GRCh37 |
NC_000014.7:g.22973126G>T | NCBI36 |
NG_007884.1:g.6585C>A , LRG_384:g.6585C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.-9+117C>A MANE Select | ENSP00000347507.3:n.-9+117C>A | |
ENST00000355349.3:c.-9+117C>A | ENSP00000347507.3:n.-9+117C>A | |
NM_000257.3:c.-9+117C>A | NP_000248.2:n.-9+117C>A | |
XR_245686.3:n.98+117C>A | ||
XM_017021340.1:c.-8-337C>A | XP_016876829.1:n.-8-337C>A | |
NM_000257.4:c.-9+117C>A MANE Select | NP_000248.2:n.-9+117C>A |