Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101435912C= , CM000671.2:g.101435912C= | GRCh38 |
| NC_000009.11:g.104198194C= , CM000671.1:g.104198194C= | GRCh37 |
| NC_000009.10:g.103238015C= | NCBI36 |
| NG_012387.1:g.4869G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648064.1:c.-10-5015G= | ENSP00000497990.1:n.-10-5015G= |
| ENST00000648423.1:c.-64-150G= | ENSP00000497985.1:n.-64-150G= |
| ENST00000648758.1:c.-10-5015G= | ENSP00000497731.1:n.-10-5015G= |