Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.22425572T>C , CM000681.2:g.22425572T>C | GRCh38 |
| NC_000019.9:g.22608374T>C , CM000681.1:g.22608374T>C | GRCh37 |
| NC_000019.8:g.22400214T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000593802.1:c.316-22060A>G | ENSP00000472301.1:n.316-22060A>G |