HGVS | Genome Assembly |
---|---|
NC_000012.12:g.8648058A>G , CM000674.2:g.8648058A>G | GRCh38 |
NC_000012.11:g.8800654A>G , CM000674.1:g.8800654A>G | GRCh37 |
NC_000012.10:g.8691921A>G | NCBI36 |
NG_041814.1:g.19831T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359478.7:c.*33T>C MANE Select | ENSP00000352455.2:n.*33T>C | |
ENST00000359478.6:c.*33T>C | ENSP00000352455.2:n.*33T>C | |
ENST00000396549.6:c.*33T>C | ENSP00000379798.2:n.*33T>C | |
ENST00000433590.6:c.*33T>C | ENSP00000411997.2:n.*33T>C | |
ENST00000535336.5:c.*33T>C | ENSP00000438525.1:n.*33T>C | |
ENST00000535411.5:c.520+4T>C | ||
ENST00000543369.5:c.*33T>C | ENSP00000441492.1:n.*33T>C | |
ENST00000543467.5:c.269+4T>C | ENSP00000444531.1:n.269+4T>C | |
ENST00000544211.5:c.*207T>C | ENSP00000443839.1:n.*207T>C | |
NM_001297709.1:c.*33T>C | NP_001284638.1:n.*33T>C | |
NM_001297710.1:c.*33T>C | NP_001284639.1:n.*33T>C | |
NM_001297711.1:c.*33T>C | NP_001284640.1:n.*33T>C | |
NM_001297712.1:c.*33T>C | NP_001284641.1:n.*33T>C | |
NM_003480.3:c.*33T>C | NP_003471.1:n.*33T>C | |
NR_123733.1:n.888T>C | ||
NR_123734.1:n.858T>C | ||
NM_003480.4:c.*33T>C MANE Select | NP_003471.1:n.*33T>C | |
NM_001297709.2:c.*33T>C | NP_001284638.1:n.*33T>C | |
NM_001297710.2:c.*33T>C | NP_001284639.1:n.*33T>C | |
NM_001297711.2:c.*33T>C | NP_001284640.1:n.*33T>C | |
NM_001297712.2:c.*33T>C | NP_001284641.1:n.*33T>C | |
NR_123733.2:n.826T>C | ||
NR_123734.2:n.796T>C |