HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585395C>A , CM000667.2:g.93585395C>A | GRCh38 |
NC_000005.9:g.92921101C>A , CM000667.1:g.92921101C>A | GRCh37 |
NC_000005.8:g.92946857C>A | NCBI36 |
NG_034119.1:g.7059C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.297C>A | ENSP00000481517.1:p.Ala99= | |
ENST00000327111.8:c.372C>A MANE Select | ENSP00000325819.3:p.Ala124= | |
ENST00000647447.1:c.219C>A | ENSP00000495740.1:p.Ala73= | |
ENST00000327111.7:c.372C>A | ENSP00000325819.3:p.Ala124= | |
ENST00000615873.1:c.297C>A | ENSP00000481517.1:p.Ala99= | |
NM_005654.5:c.372C>A | NP_005645.1:p.Ala124= | |
NM_005654.6:c.372C>A MANE Select | NP_005645.1:p.Ala124= |