HGVS | Genome Assembly |
---|---|
NC_000016.10:g.4951285C>G , CM000678.2:g.4951285C>G | GRCh38 |
NC_000016.9:g.5001286C>G , CM000678.1:g.5001286C>G | GRCh37 |
NC_000016.8:g.4941287C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000592772.1:c.-92+9279G>C | ENSP00000467699.1:n.-92+9279G>C |