HGVS | Genome Assembly |
---|---|
NC_000006.12:g.70950408A>G , CM000668.2:g.70950408A>G | GRCh38 |
NC_000006.11:g.71660111A>G , CM000668.1:g.71660111A>G | GRCh37 |
NC_000006.10:g.71716832A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230053.11:c.591+5431T>C MANE Select | ENSP00000230053.6:n.591+5431T>C | |
ENST00000230053.10:c.591+5431T>C | ENSP00000230053.6:n.591+5431T>C | |
ENST00000615536.1:c.375+5647T>C | ENSP00000481320.1:n.375+5647T>C | |
NM_080742.2:c.591+5431T>C | NP_542780.1:n.591+5431T>C | |
XM_006715346.2:c.591+5431T>C | XP_006715409.1:n.591+5431T>C | |
NM_080742.3:c.591+5431T>C MANE Select | NP_542780.1:n.591+5431T>C |