HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45973834A>G , CM000684.2:g.45973834A>G | GRCh38 |
NC_000022.10:g.46369714A>G , CM000684.1:g.46369714A>G | GRCh37 |
NC_000022.9:g.44748378A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000339464.9:c.71+2850T>C MANE Select | ENSP00000341032.4:n.71+2850T>C | |
ENST00000339464.8:c.71+2850T>C | ENSP00000341032.4:n.71+2850T>C | |
ENST00000410058.1:c.71+2850T>C | ENSP00000387217.1:n.71+2850T>C | |
ENST00000410089.5:c.23+1711T>C | ENSP00000386781.1:n.23+1711T>C | |
ENST00000428540.1:c.-131+1856T>C | ENSP00000392750.1:n.-131+1856T>C | |
NM_058238.2:c.71+2850T>C | NP_478679.1:n.71+2850T>C | |
NM_058238.3:c.71+2850T>C MANE Select | NP_478679.1:n.71+2850T>C |