| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132532143A>T , CM000667.2:g.132532143A>T | GRCh38 |
| NC_000005.9:g.131867835A>T , CM000667.1:g.131867835A>T | GRCh37 |
| NC_000005.8:g.131895734A>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000638452.2:c.-168-27141A>T | ENSP00000492349.2:n.-168-27141A>T |
| ENST00000638504.1:n.207-27141A>T | |
| ENST00000638568.2:c.-310-24189A>T | ENSP00000491158.2:n.-310-24189A>T |
| ENST00000639899.1:n.290-27141A>T | |
| ENST00000640655.2:c.-168-27141A>T | ENSP00000491596.2:n.-168-27141A>T |