HGVS | Genome Assembly |
---|---|
NC_000005.10:g.63962161T>G , CM000667.2:g.63962161T>G | GRCh38 |
NC_000005.9:g.63257988T>G , CM000667.1:g.63257988T>G | GRCh37 |
NC_000005.8:g.63293744T>G | NCBI36 |
NG_032816.1:g.5132A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323865.5:c.-442A>C MANE Select | ENSP00000316244.4:n.-442A>C | |
ENST00000506598.1:c.-387-55A>C | ENSP00000423433.1:n.-387-55A>C | |
NM_000524.3:c.-442A>C | NP_000515.2:n.-442A>C | |
NM_000524.4:c.-442A>C MANE Select | NP_000515.2:n.-442A>C |