HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33650337T>G , CM000668.2:g.33650337T>G | GRCh38 |
NC_000006.11:g.33618114T>G , CM000668.1:g.33618114T>G | GRCh37 |
NC_000006.10:g.33726092T>G | NCBI36 |
NG_027729.1:g.33959T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000605930.3:c.161-5429T>G MANE Select | ENSP00000475177.1:n.161-5429T>G | |
ENST00000374316.9:c.161-5429T>G | ENSP00000363435.4:n.161-5429T>G | |
ENST00000605930.2:c.161-5429T>G | ENSP00000475177.1:n.161-5429T>G | |
NM_002224.3:c.161-5429T>G | NP_002215.2:n.161-5429T>G | |
XM_011514576.1:c.230-5429T>G | XP_011512878.1:n.230-5429T>G | |
XM_017010832.1:c.161-5429T>G | XP_016866321.1:n.161-5429T>G | |
NM_002224.4:c.161-5429T>G MANE Select | NP_002215.2:n.161-5429T>G |