HGVS | Genome Assembly |
---|---|
NC_000015.10:g.78534631G>C , CM000677.2:g.78534631G>C | GRCh38 |
NC_000015.9:g.78826973G>C , CM000677.1:g.78826973G>C | GRCh37 |
NC_000015.8:g.76614028G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388988.9:c.*961G>C MANE Select | ENSP00000373640.4:n.*961G>C | |
ENST00000408962.6:c.662-2669G>C | ENSP00000386197.2:n.662-2669G>C | |
ENST00000563233.2:c.662-2669G>C | ENSP00000454850.1:n.662-2669G>C | |
ENST00000569878.5:c.2083G>C | ENSP00000455459.1:n.2083G>C | |
NM_001083612.1:c.662-2669G>C | NP_001077081.1:n.662-2669G>C | |
NM_001013619.3:c.*961G>C | NP_001013641.2:n.*961G>C | |
NM_001013619.4:c.*961G>C MANE Select | NP_001013641.2:n.*961G>C | |
NM_001083612.2:c.662-2669G>C | NP_001077081.1:n.662-2669G>C |