HGVS | Genome Assembly |
---|---|
NC_000008.11:g.104379324T>C , CM000670.2:g.104379324T>C | GRCh38 |
NC_000008.10:g.105391552T>C , CM000670.1:g.105391552T>C | GRCh37 |
NC_000008.9:g.105460728T>C | NCBI36 |
NG_008840.1:g.92726A>G | |
NG_008840.2:g.92726A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521601.1:n.328+1860A>G |