Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256247C= , CM000671.2:g.133256247C= | GRCh38 |
| NC_000009.11:g.136131634C= , CM000671.1:g.136131634C= | GRCh37 |
| NC_000009.10:g.135121455C= | NCBI36 |
| NG_006669.1:g.21421G= | |
| NG_006669.2:g.23969G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.513G= | ||
| ENST00000647353.1:n.54-5095G= | ||
| ENST00000651471.1:n.439G= | ||
| ENST00000679909.1:c.28+18915G= | ENSP00000506089.1:n.28+18915G= | |
| ENST00000453660.3:n.495G= | ||
| ENST00000538324.2:c.481G= | ENSP00000483018.1:p.Val161= | |
| ENST00000611156.4:c.481G= | ENSP00000483265.1:p.Val161= | |
| NM_020469.2:c.484G= | NP_065202.2:p.Val162= | |
| NM_020469.3:c.484G= | NP_065202.2:p.Val162= |