HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3926040T>C , CM000681.2:g.3926040T>C | GRCh38 |
NC_000019.9:g.3926038T>C , CM000681.1:g.3926038T>C | GRCh37 |
NC_000019.8:g.3877038T>C | NCBI36 |
NG_012638.1:g.50421T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450849.7:c.*1448T>C MANE Select | ENSP00000390941.1:n.*1448T>C | |
ENST00000450849.6:c.*1448T>C | ENSP00000390941.1:n.*1448T>C | |
ENST00000600960.1:c.2628T>C | ENSP00000470842.1:n.2628T>C | |
ENST00000601323.1:n.440-218T>C | ||
NM_033064.4:c.*1448T>C | NP_149053.1:n.*1448T>C | |
NM_033064.5:c.*1448T>C MANE Select | NP_149053.1:n.*1448T>C |