HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11826180A>G , CM000678.2:g.11826180A>G | GRCh38 |
NC_000016.9:g.11920037A>G , CM000678.1:g.11920037A>G | GRCh37 |
NC_000016.8:g.11827538A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
NR_024049.1:n.512-1441T>C | ||
NR_024050.1:n.204+2142T>C | ||
NR_131216.1:n.134+2519T>C | ||
NR_131217.1:n.419+2142T>C | ||
NR_131222.1:n.134+2519T>C |