HGVS | Genome Assembly |
---|---|
NC_000002.12:g.111618386A>C , CM000664.2:g.111618386A>C | GRCh38 |
NC_000002.11:g.112375963A>C , CM000664.1:g.112375963A>C | GRCh37 |
NC_000002.10:g.112092434A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643447.1:c.920-3776T>G | ENSP00000494863.1:n.920-3776T>G | |
XR_001739641.1:n.1442T>G |