HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24206896T>G , CM000668.2:g.24206896T>G | GRCh38 |
NC_000006.11:g.24207124T>G , CM000668.1:g.24207124T>G | GRCh37 |
NC_000006.10:g.24315103T>G | NCBI36 |
NG_012829.1:g.156157A>C | |
NG_012829.2:g.181397A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.923-1794A>C MANE Select | ENSP00000367715.3:n.923-1794A>C | |
ENST00000378454.7:c.923-1794A>C | ENSP00000367715.3:n.923-1794A>C | |
NM_001195610.1:c.923-1794A>C | NP_001182539.1:n.923-1794A>C | |
NM_016356.4:c.923-1794A>C | NP_057440.2:n.923-1794A>C | |
NM_016356.5:c.923-1794A>C MANE Select | NP_057440.2:n.923-1794A>C | |
NM_001195610.2:c.923-1794A>C | NP_001182539.1:n.923-1794A>C |