HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152789G>A , CM000677.2:g.80152789G>A | GRCh38 |
NC_000015.9:g.80445131G>A , CM000677.1:g.80445131G>A | GRCh37 |
NC_000015.8:g.78232186G>A | NCBI36 |
NG_012833.1:g.4791G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407106.5:c.-146G>A | ENSP00000385080.1:n.-146G>A | |
ENST00000537726.5:n.1G>A | ||
ENST00000558022.5:c.-29-237G>A | ENSP00000453152.1:n.-29-237G>A | |
NM_001374377.1:c.-146G>A | NP_001361306.1:n.-146G>A | |
NM_001374380.1:c.-82G>A | NP_001361309.1:n.-82G>A |