Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135097880T>C , CM000668.2:g.135097880T>C | GRCh38 |
| NC_000006.11:g.135419018T>C , CM000668.1:g.135419018T>C | GRCh37 |
| NC_000006.10:g.135460711T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000529882.5:c.88+5048A>G | ENSP00000433030.1:n.88+5048A>G |