HGVS | Genome Assembly |
---|---|
NC_000011.10:g.128891733T>C , CM000673.2:g.128891733T>C | GRCh38 |
NC_000011.9:g.128761628T>C , CM000673.1:g.128761628T>C | GRCh37 |
NC_000011.8:g.128266838T>C | NCBI36 |
NG_023406.2:g.5316T>C , LRG_333:g.5316T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529694.6:c.-11+12T>C MANE Select | ENSP00000433295.1:n.-11+12T>C | |
ENST00000338350.4:c.-100+12T>C | ENSP00000339960.4:n.-100+12T>C | |
ENST00000529694.5:c.-11+12T>C | ENSP00000433295.1:n.-11+12T>C | |
NM_000890.3:c.-11+12T>C , LRG_333t1:c.-11+12T>C | NP_000881.3:n.-11+12T>C | |
NM_000890.4:c.-11+12T>C | NP_000881.3:n.-11+12T>C | |
NM_001354169.1:c.-100+12T>C | NP_001341098.1:n.-100+12T>C | |
NM_000890.5:c.-11+12T>C MANE Select | NP_000881.3:n.-11+12T>C | |
NM_001354169.2:c.-100+12T>C | NP_001341098.1:n.-100+12T>C |