Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255806A= , CM000671.2:g.133255806A= | GRCh38 |
| NC_000009.11:g.136131193A= , CM000671.1:g.136131193A= | GRCh37 |
| NC_000009.10:g.135121014A= | NCBI36 |
| NG_006669.1:g.21862T= | |
| NG_006669.2:g.24410T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.954T= | ||
| ENST00000647353.1:n.54-4654T= | ||
| ENST00000679909.1:c.28+19356T= | ENSP00000506089.1:n.28+19356T= | |
| ENST00000453660.3:n.936T= | ||
| ENST00000538324.2:c.922T= | ENSP00000483018.1:p.Tyr308= | |
| ENST00000611156.4:c.922T= | ENSP00000483265.1:p.Tyr308= | |
| NM_020469.2:c.925T= | NP_065202.2:p.Tyr309= | |
| NM_020469.3:c.925T= | NP_065202.2:p.Tyr309= |