Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256166T= , CM000671.2:g.133256166T= | GRCh38 |
| NC_000009.11:g.136131553T= , CM000671.1:g.136131553T= | GRCh37 |
| NC_000009.10:g.135121374T= | NCBI36 |
| NG_006669.1:g.21502A= | |
| NG_006669.2:g.24050A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.594A= | ||
| ENST00000647353.1:n.54-5014A= | ||
| ENST00000651471.1:n.520A= | ||
| ENST00000679909.1:c.28+18996A= | ENSP00000506089.1:n.28+18996A= | |
| ENST00000453660.3:n.576A= | ||
| ENST00000538324.2:c.562A= | ENSP00000483018.1:p.Met188= | |
| ENST00000611156.4:c.562A= | ENSP00000483265.1:p.Met188= | |
| NM_020469.2:c.565A= | NP_065202.2:p.Met189= | |
| NM_020469.3:c.565A= | NP_065202.2:p.Met189= |