HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293317A>T , CM000684.2:g.45293317A>T | GRCh38 |
NC_000022.10:g.45689198A>T , CM000684.1:g.45689198A>T | GRCh37 |
NC_000022.9:g.44067862A>T | NCBI36 |
NG_016203.1:g.13331A>T | |
NG_016203.2:g.13331A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.704+4A>T MANE Select | ENSP00000216211.4:n.704+4A>T | |
ENST00000216211.8:c.704+4A>T | ENSP00000216211.4:n.704+4A>T | |
ENST00000396082.2:c.341+4A>T | ENSP00000379391.2:n.341+4A>T | |
NM_001167574.1:c.341+4A>T | NP_001161046.1:n.341+4A>T | |
NM_006953.3:c.704+4A>T | NP_008884.1:n.704+4A>T | |
XM_011530364.1:c.710+4A>T | XP_011528666.1:n.710+4A>T | |
XM_011530365.1:c.347+4A>T | XP_011528667.1:n.347+4A>T | |
NM_006953.4:c.704+4A>T MANE Select | NP_008884.1:n.704+4A>T | |
NM_001167574.2:c.341+4A>T | NP_001161046.1:n.341+4A>T |