| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40323836A>G , CM000667.2:g.40323836A>G | GRCh38 |
| NC_000005.9:g.40323938A>G , CM000667.1:g.40323938A>G | GRCh37 |
| NC_000005.8:g.40359695A>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001742647.1:n.204+3612T>C | |
| XR_001742649.1:n.204+3612T>C | |
| XR_925937.1:n.250+3612T>C | |
| XR_925938.2:n.204+3612T>C | |
| XR_925940.1:n.250+3612T>C |