HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41584550T>C , CM000679.2:g.41584550T>C | GRCh38 |
NC_000017.10:g.39740802T>C , CM000679.1:g.39740802T>C | GRCh37 |
NC_000017.9:g.36994328T>C | NCBI36 |
NG_008624.1:g.7346A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.609-137A>G MANE Select | ENSP00000167586.6:n.609-137A>G | |
ENST00000167586.6:c.609-137A>G | ENSP00000167586.6:n.609-137A>G | |
NM_000526.4:c.609-137A>G | NP_000517.2:n.609-137A>G | |
NM_000526.5:c.609-137A>G MANE Select | NP_000517.3:n.609-137A>G |