Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42145093T>C , CM000684.2:g.42145093T>C | GRCh38 |
| NC_000022.10:g.42541094T>C , CM000684.1:g.42541094T>C | GRCh37 |
| NC_000022.9:g.40871038T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000651010.1:n.623A>G |