HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50624913C>A , CM000684.2:g.50624913C>A | GRCh38 |
NC_000022.10:g.51063341C>A , CM000684.1:g.51063341C>A | GRCh37 |
NC_000022.9:g.49410207C>A | NCBI36 |
NG_009260.2:g.8267G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216124.10:c.*232G>T MANE Select | ENSP00000216124.5:n.*232G>T | |
ENST00000608497.1:c.180+450G>T | ||
NM_000487.5:c.*232G>T | NP_000478.3:n.*232G>T | |
NM_001085425.2:c.*232G>T | NP_001078894.2:n.*232G>T | |
NM_001085426.2:c.*232G>T | NP_001078895.2:n.*232G>T | |
NM_001085427.2:c.*232G>T | NP_001078896.2:n.*232G>T | |
NM_001085428.2:c.*232G>T | NP_001078897.1:n.*232G>T | |
NM_001362782.1:c.*232G>T | NP_001349711.1:n.*232G>T | |
NM_000487.6:c.*232G>T MANE Select | NP_000478.3:n.*232G>T | |
NM_001085425.3:c.*232G>T | NP_001078894.2:n.*232G>T | |
NM_001085426.3:c.*232G>T | NP_001078895.2:n.*232G>T | |
NM_001085427.3:c.*232G>T | NP_001078896.2:n.*232G>T | |
NM_001085428.3:c.*232G>T | NP_001078897.1:n.*232G>T | |
NM_001362782.2:c.*232G>T | NP_001349711.1:n.*232G>T |