HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74755016C>A , CM000677.2:g.74755016C>A | GRCh38 |
NC_000015.9:g.75047357C>A , CM000677.1:g.75047357C>A | GRCh37 |
NC_000015.8:g.72834410C>A | NCBI36 |
NG_008431.1:g.37475C>A | |
NG_008431.2:g.37475C>A | |
NG_061543.1:g.11172C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1479C>A MANE Select | ENSP00000342007.4:p.Pro493= | |
ENST00000343932.4:c.1479C>A | ENSP00000342007.4:p.Pro493= | |
NM_000761.4:c.1479C>A | NP_000752.2:p.Pro493= | |
NM_000761.5:c.1479C>A MANE Select | NP_000752.2:p.Pro493= |