HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293315T>G , CM000684.2:g.45293315T>G | GRCh38 |
NC_000022.10:g.45689196T>G , CM000684.1:g.45689196T>G | GRCh37 |
NC_000022.9:g.44067860T>G | NCBI36 |
NG_016203.1:g.13329T>G | |
NG_016203.2:g.13329T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.704+2T>G MANE Select | ENSP00000216211.4:n.704+2T>G | |
ENST00000216211.8:c.704+2T>G | ENSP00000216211.4:n.704+2T>G | |
ENST00000396082.2:c.341+2T>G | ENSP00000379391.2:n.341+2T>G | |
NM_001167574.1:c.341+2T>G | NP_001161046.1:n.341+2T>G | |
NM_006953.3:c.704+2T>G | NP_008884.1:n.704+2T>G | |
XM_011530364.1:c.710+2T>G | XP_011528666.1:n.710+2T>G | |
XM_011530365.1:c.347+2T>G | XP_011528667.1:n.347+2T>G | |
NM_006953.4:c.704+2T>G MANE Select | NP_008884.1:n.704+2T>G | |
NM_001167574.2:c.341+2T>G | NP_001161046.1:n.341+2T>G |