HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152791T>G , CM000677.2:g.80152791T>G | GRCh38 |
NC_000015.9:g.80445133T>G , CM000677.1:g.80445133T>G | GRCh37 |
NC_000015.8:g.78232188T>G | NCBI36 |
NG_012833.1:g.4793T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407106.5:c.-144T>G | ENSP00000385080.1:n.-144T>G | |
ENST00000537726.5:n.3T>G | ||
ENST00000558022.5:c.-29-235T>G | ENSP00000453152.1:n.-29-235T>G | |
NM_001374377.1:c.-144T>G | NP_001361306.1:n.-144T>G | |
NM_001374380.1:c.-80T>G | NP_001361309.1:n.-80T>G |