Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257422A= , CM000671.2:g.133257422A= | GRCh38 |
| NC_000009.11:g.136132809A= , CM000671.1:g.136132809A= | GRCh37 |
| NC_000009.10:g.135122630A= | NCBI36 |
| NG_006669.1:g.20246T= | |
| NG_006669.2:g.22794T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.390T= | ||
| ENST00000647353.1:n.54-6270T= | ||
| ENST00000651471.1:n.329+620T= | ||
| ENST00000679909.1:c.28+17740T= | ENSP00000506089.1:n.28+17740T= | |
| ENST00000453660.3:n.372T= | ||
| ENST00000538324.2:c.358T= | ENSP00000483018.1:p.Phe120= | |
| ENST00000611156.4:c.358T= | ENSP00000483265.1:p.Phe120= | |
| NM_020469.2:c.361T= | NP_065202.2:p.Phe121= | |
| NM_020469.3:c.361T= | NP_065202.2:p.Phe121= |