Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.31420306T>C , CM000681.2:g.31420306T>C | GRCh38 |
| NC_000019.9:g.31911212T>C , CM000681.1:g.31911212T>C | GRCh37 |
| NC_000019.8:g.36603052T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753896.1:n.2967T>C | ||
| XR_001753897.1:n.2963T>C | ||
| XR_001753898.1:n.2963T>C | ||
| XR_001753899.1:n.2687T>C | ||
| XR_001753900.1:n.2459T>C | ||
| XR_002958388.1:n.3089T>C |