Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159024443A>C , CM000668.2:g.159024443A>C | GRCh38 |
| NC_000006.11:g.159445475A>C , CM000668.1:g.159445475A>C | GRCh37 |
| NC_000006.10:g.159365463A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943172.1:n.402-1506A>C | ||
| XR_943173.1:n.260-1506A>C | ||
| XR_943174.1:n.402-1506A>C | ||
| XR_001744428.2:n.265-1506A>C | ||
| XR_001744429.1:n.419-1506A>C | ||
| XR_001744430.2:n.419-1506A>C | ||
| XR_002956373.1:n.278-1506A>C | ||
| XR_943174.2:n.419-1506A>C |