Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89917733A>C , CM000668.2:g.89917733A>C | GRCh38 |
| NC_000006.11:g.90627452A>C , CM000668.1:g.90627452A>C | GRCh37 |
| NC_000006.10:g.90684173A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000638915.1:c.1441-3392A>C | ENSP00000492666.1:n.1441-3392A>C |