Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256045A= , CM000671.2:g.133256045A= | GRCh38 |
| NC_000009.11:g.136131432A= , CM000671.1:g.136131432A= | GRCh37 |
| NC_000009.10:g.135121253A= | NCBI36 |
| NG_006669.1:g.21623T= | |
| NG_006669.2:g.24171T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.715T= | ||
| ENST00000647353.1:n.54-4893T= | ||
| ENST00000679909.1:c.28+19117T= | ENSP00000506089.1:n.28+19117T= | |
| ENST00000453660.3:n.697T= | ||
| ENST00000538324.2:c.683T= | ENSP00000483018.1:p.Phe228= | |
| ENST00000611156.4:c.683T= | ENSP00000483265.1:p.Phe228= | |
| NM_020469.2:c.686T= | NP_065202.2:p.Phe229= | |
| NM_020469.3:c.686T= | NP_065202.2:p.Phe229= |