HGVS | Genome Assembly |
---|---|
NC_000007.14:g.134063193G>A , CM000669.2:g.134063193G>A | GRCh38 |
NC_000007.13:g.133747946G>A , CM000669.1:g.133747946G>A | GRCh37 |
NC_000007.12:g.133398486G>A | NCBI36 |
NG_047176.1:g.815127G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253861.5:c.2688-1098G>A MANE Select | ENSP00000253861.4:n.2688-1098G>A | |
ENST00000253861.4:c.2688-1098G>A | ENSP00000253861.4:n.2688-1098G>A | |
ENST00000459626.1:n.425-1098G>A | ||
ENST00000466000.1:n.236-1098G>A | ||
NM_021807.3:c.2688-1098G>A | NP_068579.3:n.2688-1098G>A | |
XM_017012494.2:c.1518-1098G>A | XP_016867983.1:n.1518-1098G>A | |
XR_001744845.2:n.2715-1098G>A | ||
NM_021807.4:c.2688-1098G>A MANE Select | NP_068579.3:n.2688-1098G>A |