HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24347905T>G , CM000668.2:g.24347905T>G | GRCh38 |
NC_000006.11:g.24348133T>G , CM000668.1:g.24348133T>G | GRCh37 |
NC_000006.10:g.24456112T>G | NCBI36 |
NG_012829.1:g.15148A>C | |
NG_012829.2:g.40388A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.348+5664A>C MANE Select | ENSP00000367715.3:n.348+5664A>C | |
ENST00000378454.7:c.348+5664A>C | ENSP00000367715.3:n.348+5664A>C | |
NM_001195610.1:c.348+5664A>C | NP_001182539.1:n.348+5664A>C | |
NM_016356.4:c.348+5664A>C | NP_057440.2:n.348+5664A>C | |
NM_016356.5:c.348+5664A>C MANE Select | NP_057440.2:n.348+5664A>C | |
NM_001195610.2:c.348+5664A>C | NP_001182539.1:n.348+5664A>C |