HGVS | Genome Assembly |
---|---|
NC_000023.11:g.83508714C>A , CM000685.2:g.83508714C>A | GRCh38 |
NC_000023.10:g.82763722C>A , CM000685.1:g.82763722C>A | GRCh37 |
NC_000023.9:g.82650378C>A | NCBI36 |
NG_009936.2:g.5454C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644024.2:c.390C>A MANE Select | ENSP00000495996.1:p.Pro130= | |
ENST00000373200.4:c.390C>A | ENSP00000362296.2:p.Pro130= | |
NM_000307.4:c.390C>A | NP_000298.3:p.Pro130= | |
NM_000307.5:c.390C>A MANE Select | NP_000298.3:p.Pro130= |