Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135055071T>C , CM000668.2:g.135055071T>C | GRCh38 |
| NC_000006.11:g.135376209T>C , CM000668.1:g.135376209T>C | GRCh37 |
| NC_000006.10:g.135417902T>C | NCBI36 |
| NG_012002.1:g.4828A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000529882.5:c.89-4424A>G | ENSP00000433030.1:n.89-4424A>G |