HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81649219C>G , CM000665.2:g.81649219C>G | GRCh38 |
NC_000003.11:g.81698370C>G , CM000665.1:g.81698370C>G | GRCh37 |
NC_000003.10:g.81781060C>G | NCBI36 |
NG_011810.1:g.117582G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.556-228G>C MANE Select | ENSP00000410833.2:n.556-228G>C | |
ENST00000429644.6:c.556-228G>C | ENSP00000410833.2:n.556-228G>C | |
ENST00000486920.1:n.552-228G>C | ||
ENST00000489715.1:c.433-228G>C | ENSP00000419638.1:n.433-228G>C | |
ENST00000498468.1:n.84-228G>C | ||
NM_000158.3:c.556-228G>C | NP_000149.3:n.556-228G>C | |
NM_000158.4:c.556-228G>C MANE Select | NP_000149.4:n.556-228G>C |