HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107779341C>T , CM000669.2:g.107779341C>T | GRCh38 |
NC_000007.13:g.107419786C>T , CM000669.1:g.107419786C>T | GRCh37 |
NC_000007.12:g.107207022C>T | NCBI36 |
NG_008046.1:g.28893G>A , LRG_683:g.28893G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340010.10:c.1407+327G>A MANE Select | ENSP00000345873.5:n.1407+327G>A | |
ENST00000340010.9:c.1407+327G>A | ENSP00000345873.5:n.1407+327G>A | |
ENST00000379083.7:c.*1198+327G>A | ENSP00000368375.3:n.*1198+327G>A | |
NM_000111.2:c.1407+327G>A , LRG_683t1:c.1407+327G>A | NP_000102.1:n.1407+327G>A | |
XM_011515867.1:c.1407+327G>A | XP_011514169.1:n.1407+327G>A | |
NM_000111.3:c.1407+327G>A MANE Select | NP_000102.1:n.1407+327G>A |