HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40285371A>C , CM000681.2:g.40285371A>C | GRCh38 |
NC_000019.9:g.40791278A>C , CM000681.1:g.40791278A>C | GRCh37 |
NC_000019.8:g.45483118A>C | NCBI36 |
NG_012038.2:g.4988T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000391844.8:c.-321T>G | ENSP00000375719.4:n.-321T>G | |
ENST00000392038.6:c.-275T>G | ENSP00000375892.2:n.-275T>G | |
ENST00000424901.5:c.-275T>G | ENSP00000399532.2:n.-275T>G | |
ENST00000578123.5:c.-85+77T>G | ENSP00000462022.1:n.-85+77T>G | |
NM_001243027.2:c.-424T>G | NP_001229956.1:n.-424T>G | |
NM_001243028.2:c.-331T>G | NP_001229957.1:n.-331T>G | |
NM_001626.5:c.-275T>G | NP_001617.1:n.-275T>G | |
XM_011526620.1:c.-85+77T>G | XP_011524922.1:n.-85+77T>G |