HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739465C>A , CM000674.2:g.120739465C>A | GRCh38 |
NC_000012.11:g.121177268C>A , CM000674.1:g.121177268C>A | GRCh37 |
NC_000012.10:g.119661651C>A | NCBI36 |
NG_007991.1:g.18698C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*17C>A MANE Select | ENSP00000242592.4:n.*17C>A | |
ENST00000242592.8:c.*17C>A | ENSP00000242592.4:n.*17C>A | |
ENST00000411593.2:c.*17C>A | ENSP00000401045.2:n.*17C>A | |
NM_000017.3:c.*17C>A | NP_000008.1:n.*17C>A | |
NM_001302554.1:c.*17C>A | NP_001289483.1:n.*17C>A | |
NM_000017.4:c.*17C>A MANE Select | NP_000008.1:n.*17C>A | |
NM_001302554.2:c.*17C>A | NP_001289483.1:n.*17C>A |