HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16992558G>T , CM000670.2:g.16992558G>T | GRCh38 |
NC_000008.10:g.16850067G>T , CM000670.1:g.16850067G>T | GRCh37 |
NC_000008.9:g.16894438G>T | NCBI36 |
NG_015978.1:g.14608C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.*514C>A MANE Select | ENSP00000180166.5:n.*514C>A | |
ENST00000180166.5:c.*514C>A | ENSP00000180166.5:n.*514C>A | |
NM_019851.3:c.*514C>A MANE Select | NP_062825.1:n.*514C>A |