HGVS | Genome Assembly |
---|---|
NC_000007.14:g.121334799G>T , CM000669.2:g.121334799G>T | GRCh38 |
NC_000007.13:g.120974853G>T , CM000669.1:g.120974853G>T | GRCh37 |
NC_000007.12:g.120762089G>T | NCBI36 |
NG_029242.1:g.14433G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222462.3:c.633+2835G>T MANE Select | ENSP00000222462.2:n.633+2835G>T | |
ENST00000222462.2:c.633+2835G>T | ENSP00000222462.2:n.633+2835G>T | |
ENST00000361301.6:c.603+2835G>T | ENSP00000355065.2:n.603+2835G>T | |
NM_016087.2:c.603+2835G>T | NP_057171.2:n.603+2835G>T | |
NM_057168.1:c.633+2835G>T | NP_476509.1:n.633+2835G>T | |
NM_057168.2:c.633+2835G>T MANE Select | NP_476509.1:n.633+2835G>T |