HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454487C>A , CM000679.2:g.7454487C>A | GRCh38 |
NC_000017.10:g.7357806C>A , CM000679.1:g.7357806C>A | GRCh37 |
NC_000017.9:g.7298530C>A | NCBI36 |
NG_008026.1:g.14401C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1011C>A MANE Select | ENSP00000304290.2:p.Pro337= | |
ENST00000306071.6:c.1011C>A | ENSP00000304290.2:p.Pro337= | |
ENST00000536404.6:c.795C>A | ENSP00000439209.2:p.Pro265= | |
ENST00000570557.5:c.674C>A | ||
ENST00000573209.1:n.1955C>A | ||
ENST00000576360.1:c.648C>A | ENSP00000459092.1:p.Pro216= | |
NM_000747.2:c.1011C>A | NP_000738.2:p.Pro337= | |
NM_000747.3:c.1011C>A MANE Select | NP_000738.2:p.Pro337= |