HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33650264G>A , CM000668.2:g.33650264G>A | GRCh38 |
NC_000006.11:g.33618041G>A , CM000668.1:g.33618041G>A | GRCh37 |
NC_000006.10:g.33726019G>A | NCBI36 |
NG_027729.1:g.33886G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605930.3:c.161-5502G>A MANE Select | ENSP00000475177.1:n.161-5502G>A | |
ENST00000374316.9:c.161-5502G>A | ENSP00000363435.4:n.161-5502G>A | |
ENST00000605930.2:c.161-5502G>A | ENSP00000475177.1:n.161-5502G>A | |
NM_002224.3:c.161-5502G>A | NP_002215.2:n.161-5502G>A | |
XM_011514576.1:c.230-5502G>A | XP_011512878.1:n.230-5502G>A | |
XM_017010832.1:c.161-5502G>A | XP_016866321.1:n.161-5502G>A | |
NM_002224.4:c.161-5502G>A MANE Select | NP_002215.2:n.161-5502G>A |