HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50625024C>T , CM000684.2:g.50625024C>T | GRCh38 |
NC_000022.10:g.51063452C>T , CM000684.1:g.51063452C>T | GRCh37 |
NC_000022.9:g.49410318C>T | NCBI36 |
NG_009260.2:g.8156G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216124.10:c.*121G>A MANE Select | ENSP00000216124.5:n.*121G>A | |
ENST00000216124.9:c.*121G>A | ENSP00000216124.5:n.*121G>A | |
ENST00000356098.9:c.*121G>A | ENSP00000348406.5:n.*121G>A | |
ENST00000608497.1:c.180+339G>A | ||
NM_000487.5:c.*121G>A | NP_000478.3:n.*121G>A | |
NM_001085425.2:c.*121G>A | NP_001078894.2:n.*121G>A | |
NM_001085426.2:c.*121G>A | NP_001078895.2:n.*121G>A | |
NM_001085427.2:c.*121G>A | NP_001078896.2:n.*121G>A | |
NM_001085428.2:c.*121G>A | NP_001078897.1:n.*121G>A | |
XM_011530690.1:c.*121G>A | XP_011528992.1:n.*121G>A | |
XM_011530691.1:c.*384G>A | XP_011528993.1:n.*384G>A | |
NM_001362782.1:c.*121G>A | NP_001349711.1:n.*121G>A | |
XM_011530691.3:c.*384G>A | XP_011528993.1:n.*384G>A | |
XM_017028800.1:c.*121G>A | XP_016884289.1:n.*121G>A | |
XM_024452241.1:c.*384G>A | XP_024308009.1:n.*384G>A | |
NM_000487.6:c.*121G>A MANE Select | NP_000478.3:n.*121G>A | |
NM_001085425.3:c.*121G>A | NP_001078894.2:n.*121G>A | |
NM_001085426.3:c.*121G>A | NP_001078895.2:n.*121G>A | |
NM_001085427.3:c.*121G>A | NP_001078896.2:n.*121G>A | |
NM_001085428.3:c.*121G>A | NP_001078897.1:n.*121G>A | |
NM_001362782.2:c.*121G>A | NP_001349711.1:n.*121G>A |