HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42957936T>C , CM000677.2:g.42957936T>C | GRCh38 |
NC_000015.9:g.43250134T>C , CM000677.1:g.43250134T>C | GRCh37 |
NC_000015.8:g.41037426T>C | NCBI36 |
NG_012182.1:g.153153A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.4835+77A>G MANE Select | ENSP00000290650.4:n.4835+77A>G | |
ENST00000290650.8:c.4835+77A>G | ENSP00000290650.4:n.4835+77A>G | |
NM_174916.2:c.4835+77A>G | NP_777576.1:n.4835+77A>G | |
NM_174916.3:c.4835+77A>G MANE Select | NP_777576.1:n.4835+77A>G |