HGVS | Genome Assembly |
---|---|
NC_000004.12:g.35981414T>C , CM000666.2:g.35981414T>C | GRCh38 |
NC_000004.11:g.35983036T>C , CM000666.1:g.35983036T>C | GRCh37 |
NC_000004.10:g.35659431T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000503225.5:n.1607+3816A>G | ||
XR_925192.1:n.1535A>G |