Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30689292A= , CM000669.2:g.30689292A= | GRCh38 |
| NC_000007.13:g.30728908A= , CM000669.1:g.30728908A= | GRCh37 |
| NC_000007.12:g.30695433A= | NCBI36 |
| NG_029169.1:g.15812T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001202475.1:c.91-8T= | NP_001189404.1:n.91-8T= |
| NM_001202481.1:c.-260-8T= | NP_001189410.1:n.-260-8T= |
| ENST00000341843.8:c.-260-8T= | ENSP00000344304.4:n.-260-8T= |
| ENST00000348438.8:c.91-8T= | ENSP00000340943.4:n.91-8T= |
| ENST00000423776.1:c.91-8T= | ENSP00000416620.1:n.91-8T= |
| ENST00000445981.5:c.91-8T= | ENSP00000401241.1:n.91-8T= |
| ENST00000452278.5:c.91-8T= | ENSP00000401930.1:n.91-8T= |
| ENST00000462882.1:n.187-8T= |