Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404823G= , CM000669.2:g.32404823G= | GRCh38 |
| NC_000007.13:g.32444435G= , CM000669.1:g.32444435G= | GRCh37 |
| NC_000007.12:g.32410960G= | NCBI36 |
| NG_051183.1:g.28402C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001322059.1:c.310+22999C= | NP_001308988.1:n.310+22999C= |
| NM_001322059.2:c.310+22999C= | NP_001308988.1:n.310+22999C= |
| ENST00000672256.1:c.310+22999C= | ENSP00000499831.1:n.310+22999C= |