HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775662A>T , CM000672.2:g.94775662A>T | GRCh38 |
NC_000010.10:g.96535419A>T , CM000672.1:g.96535419A>T | GRCh37 |
NC_000010.9:g.96525409A>T | NCBI36 |
NG_008384.2:g.17957A>T | |
NG_008384.3:g.17982A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.481+123A>T MANE Select | ENSP00000360372.3:n.481+123A>T | |
ENST00000645461.1:n.1534+123A>T | ||
ENST00000371321.7:c.481+123A>T | ENSP00000360372.3:n.481+123A>T | |
ENST00000464755.1:c.1244+123A>T | ENSP00000483243.1:n.1244+123A>T | |
ENST00000480405.2:c.*115A>T | ENSP00000483847.1:n.*115A>T | |
NM_000769.2:c.481+123A>T | NP_000760.1:n.481+123A>T | |
NM_000769.4:c.481+123A>T MANE Select | NP_000760.1:n.481+123A>T |