HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583681A>C , CM000679.2:g.41583681A>C | GRCh38 |
NC_000017.10:g.39739933A>C , CM000679.1:g.39739933A>C | GRCh37 |
NC_000017.9:g.36993459A>C | NCBI36 |
NG_008624.1:g.8215T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.928-5T>G MANE Select | ENSP00000167586.6:n.928-5T>G | |
ENST00000167586.6:c.928-5T>G | ENSP00000167586.6:n.928-5T>G | |
ENST00000476662.1:n.378-5T>G | ||
NM_000526.4:c.928-5T>G | NP_000517.2:n.928-5T>G | |
NM_000526.5:c.928-5T>G MANE Select | NP_000517.3:n.928-5T>G |