Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255640G= , CM000671.2:g.133255640G= | GRCh38 |
| NC_000009.11:g.136131027G= , CM000671.1:g.136131027G= | GRCh37 |
| NC_000009.10:g.135120848G= | NCBI36 |
| NG_006669.1:g.22028C= | |
| NG_006669.2:g.24576C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1120C= | ||
| ENST00000647353.1:n.54-4488C= | ||
| ENST00000679909.1:c.28+19522C= | ENSP00000506089.1:n.28+19522C= | |
| ENST00000453660.3:n.1102C= | ||
| ENST00000538324.2:c.1084C= | ENSP00000483018.1:p.Leu362= | |
| ENST00000611156.4:c.*26C= | ENSP00000483265.1:n.*26C= | |
| NM_020469.2:c.*26C= | NP_065202.2:n.*26C= | |
| NM_020469.3:c.*26C= | NP_065202.2:n.*26C= |