HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42536738C>G , CM000679.2:g.42536738C>G | GRCh38 |
NC_000017.10:g.40688756C>G , CM000679.1:g.40688756C>G | GRCh37 |
NC_000017.9:g.37942282C>G | NCBI36 |
NG_011552.1:g.5806C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.383+83C>G MANE Select | ENSP00000225927.1:n.383+83C>G | |
ENST00000225927.6:c.383+83C>G | ENSP00000225927.1:n.383+83C>G | |
ENST00000586516.5:c.133+83C>G | ||
ENST00000591587.1:c.126+83C>G | ENSP00000467836.1:n.126+83C>G | |
NM_000263.3:c.383+83C>G | NP_000254.2:n.383+83C>G | |
XM_006721920.2:c.-360+83C>G | XP_006721983.1:n.-360+83C>G | |
XM_011524840.1:c.-360+83C>G | XP_011523142.1:n.-360+83C>G | |
XM_024450771.1:c.384-79C>G | XP_024306539.1:n.384-79C>G | |
NM_000263.4:c.383+83C>G MANE Select | NP_000254.2:n.383+83C>G |