HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16992815T>C , CM000670.2:g.16992815T>C | GRCh38 |
NC_000008.10:g.16850324T>C , CM000670.1:g.16850324T>C | GRCh37 |
NC_000008.9:g.16894695T>C | NCBI36 |
NG_015978.1:g.14351A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.*257A>G MANE Select | ENSP00000180166.5:n.*257A>G | |
ENST00000180166.5:c.*257A>G | ENSP00000180166.5:n.*257A>G | |
NM_019851.3:c.*257A>G MANE Select | NP_062825.1:n.*257A>G |