Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255680C= , CM000671.2:g.133255680C= | GRCh38 |
| NC_000009.11:g.136131067C= , CM000671.1:g.136131067C= | GRCh37 |
| NC_000009.10:g.135120888C= | NCBI36 |
| NG_006669.1:g.21988G= | |
| NG_006669.2:g.24536G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1080G= | ||
| ENST00000647353.1:n.54-4528G= | ||
| ENST00000679909.1:c.28+19482G= | ENSP00000506089.1:n.28+19482G= | |
| ENST00000453660.3:n.1062G= | ||
| ENST00000538324.2:c.1048G= | ENSP00000483018.1:p.Val350= | |
| ENST00000611156.4:c.1048G= | ENSP00000483265.1:p.Val350= | |
| NM_020469.2:c.1051G= | NP_065202.2:p.Val351= | |
| NM_020469.3:c.1051G= | NP_065202.2:p.Val351= |