Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257466T= , CM000671.2:g.133257466T= | GRCh38 |
| NC_000009.11:g.136132853T= , CM000671.1:g.136132853T= | GRCh37 |
| NC_000009.10:g.135122674T= | NCBI36 |
| NG_006669.1:g.20202A= | |
| NG_006669.2:g.22750A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.346A= | ||
| ENST00000647353.1:n.54-6314A= | ||
| ENST00000651471.1:n.329+576A= | ||
| ENST00000679909.1:c.28+17696A= | ENSP00000506089.1:n.28+17696A= | |
| ENST00000453660.3:n.328A= | ||
| ENST00000538324.2:c.314A= | ENSP00000483018.1:p.Asn105= | |
| ENST00000611156.4:c.314A= | ENSP00000483265.1:p.Asn105= | |
| NM_020469.2:c.317A= | NP_065202.2:p.Asn106= | |
| NM_020469.3:c.317A= | NP_065202.2:p.Asn106= |