HGVS | Genome Assembly |
---|---|
NC_000005.10:g.10733664C>T , CM000667.2:g.10733664C>T | GRCh38 |
NC_000005.9:g.10733776C>T , CM000667.1:g.10733776C>T | GRCh37 |
NC_000005.8:g.10786776C>T | NCBI36 |
NG_011546.1:g.32612G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230895.11:c.152+14511G>A MANE Select | ENSP00000230895.7:n.152+14511G>A | |
ENST00000230895.10:c.152+14511G>A | ENSP00000230895.6:n.152+14511G>A | |
ENST00000432074.2:c.152+14511G>A | ENSP00000394163.2:n.152+14511G>A | |
ENST00000508253.5:n.309+14511G>A | ||
ENST00000514882.5:n.220+14511G>A | ||
NM_001291963.1:c.152+14511G>A | NP_001278892.1:n.152+14511G>A | |
NM_004394.2:c.152+14511G>A | NP_004385.1:n.152+14511G>A | |
NM_001291963.2:c.152+14511G>A | NP_001278892.1:n.152+14511G>A | |
NM_004394.3:c.152+14511G>A MANE Select | NP_004385.1:n.152+14511G>A |