Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72722228A= , CM000678.2:g.72722228A= | GRCh38 |
| NC_000016.9:g.72756127A= , CM000678.1:g.72756127A= | GRCh37 |
| NC_000016.8:g.71313628A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017023920.1:c.581+8812A= | XP_016879409.1:n.581+8812A= | |
| NR_171702.1:n.328+8239A= | ||
| NR_171703.1:n.285+8812A= | ||
| NR_171704.1:n.285+8812A= | ||
| NR_171705.1:n.202-23177A= |