HGVS | Genome Assembly |
---|---|
NC_000017.11:g.9177254G>A , CM000679.2:g.9177254G>A | GRCh38 |
NC_000017.10:g.9080571G>A , CM000679.1:g.9080571G>A | GRCh37 |
NC_000017.9:g.9021296G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000173229.7:c.1208-2553G>A MANE Select | ENSP00000173229.2:n.1208-2553G>A | |
ENST00000173229.6:c.1208-2553G>A | ENSP00000173229.2:n.1208-2553G>A | |
ENST00000436734.1:c.68-2553G>A | ENSP00000389375.2:n.68-2553G>A | |
NM_004822.2:c.1208-2553G>A | NP_004813.2:n.1208-2553G>A | |
NR_110828.1:n.763C>T | ||
XM_006721595.2:c.1208-2553G>A | XP_006721658.1:n.1208-2553G>A | |
XM_006721595.3:c.1208-2553G>A | XP_006721658.1:n.1208-2553G>A | |
NM_004822.3:c.1208-2553G>A MANE Select | NP_004813.2:n.1208-2553G>A |