HGVS | Genome Assembly |
---|---|
NC_000011.10:g.34916610T>G , CM000673.2:g.34916610T>G | GRCh38 |
NC_000011.9:g.34938157T>G , CM000673.1:g.34938157T>G | GRCh37 |
NC_000011.8:g.34894733T>G | NCBI36 |
NG_013368.1:g.5481T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000448838.8:c.-21+124T>G | ENSP00000389404.3:n.-21+124T>G | |
ENST00000227868.8:c.-46T>G | ENSP00000227868.4:n.-46T>G | |
ENST00000448838.7:c.115+124T>G | ENSP00000389404.2:n.115+124T>G | |
ENST00000533550.5:c.-21+672T>G | ENSP00000431281.1:n.-21+672T>G | |
NM_001135024.1:c.115+124T>G | NP_001128496.1:n.115+124T>G | |
NM_001166158.1:c.-46T>G | NP_001159630.1:n.-46T>G | |
NM_003477.2:c.-46T>G | NP_003468.2:n.-46T>G | |
XM_011520390.1:c.-21+672T>G | XP_011518692.1:n.-21+672T>G | |
NM_001135024.2:c.-21+124T>G | NP_001128496.2:n.-21+124T>G |