Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256132A= , CM000671.2:g.133256132A= | GRCh38 |
| NC_000009.11:g.136131519A= , CM000671.1:g.136131519A= | GRCh37 |
| NC_000009.10:g.135121340A= | NCBI36 |
| NG_006669.1:g.21536T= | |
| NG_006669.2:g.24084T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.628T= | ||
| ENST00000647353.1:n.54-4980T= | ||
| ENST00000651471.1:n.554T= | ||
| ENST00000679909.1:c.28+19030T= | ENSP00000506089.1:n.28+19030T= | |
| ENST00000453660.3:n.610T= | ||
| ENST00000538324.2:c.596T= | ENSP00000483018.1:p.Phe199= | |
| ENST00000611156.4:c.596T= | ENSP00000483265.1:p.Phe199= | |
| NM_020469.2:c.599T= | NP_065202.2:p.Phe200= | |
| NM_020469.3:c.599T= | NP_065202.2:p.Phe200= |