HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6382842G>A , CM000674.2:g.6382842G>A | GRCh38 |
NC_000012.11:g.6492008G>A , CM000674.1:g.6492008G>A | GRCh37 |
NC_000012.10:g.6362269G>A | NCBI36 |
NG_033039.1:g.12475G>A | |
NG_033039.2:g.12475G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000539925.5:c.40-1746G>A | ENSP00000440875.1:n.40-1746G>A | |
ENST00000542830.5:n.266-1746G>A | ||
ENST00000546296.5:n.551-1746G>A | ||
NM_001270987.1:c.40-1746G>A | NP_001257916.1:n.40-1746G>A | |
NM_001270987.2:c.40-1746G>A | NP_001257916.1:n.40-1746G>A |