HGVS | Genome Assembly |
---|---|
NC_000004.12:g.24800361A>G , CM000666.2:g.24800361A>G | GRCh38 |
NC_000004.11:g.24801983A>G , CM000666.1:g.24801983A>G | GRCh37 |
NC_000004.10:g.24411081A>G | NCBI36 |
NG_012213.1:g.9899A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382120.4:c.*117A>G MANE Select | ENSP00000371554.3:n.*117A>G | |
ENST00000382120.3:c.*117A>G | ENSP00000371554.3:n.*117A>G | |
NM_003102.2:c.*117A>G | NP_003093.2:n.*117A>G | |
XR_427488.1:n.1030A>G | ||
NM_003102.3:c.*117A>G | NP_003093.2:n.*117A>G | |
NM_003102.4:c.*117A>G MANE Select | NP_003093.2:n.*117A>G |