HGVS | Genome Assembly |
---|---|
NC_000007.14:g.121336832A>G , CM000669.2:g.121336832A>G | GRCh38 |
NC_000007.13:g.120976886A>G , CM000669.1:g.120976886A>G | GRCh37 |
NC_000007.12:g.120764122A>G | NCBI36 |
NG_029242.1:g.16466A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222462.3:c.634-2049A>G MANE Select | ENSP00000222462.2:n.634-2049A>G | |
ENST00000222462.2:c.634-2049A>G | ENSP00000222462.2:n.634-2049A>G | |
ENST00000361301.6:c.604-2049A>G | ENSP00000355065.2:n.604-2049A>G | |
NM_016087.2:c.604-2049A>G | NP_057171.2:n.604-2049A>G | |
NM_057168.1:c.634-2049A>G | NP_476509.1:n.634-2049A>G | |
NM_057168.2:c.634-2049A>G MANE Select | NP_476509.1:n.634-2049A>G |