Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255646C= , CM000671.2:g.133255646C= | GRCh38 |
| NC_000009.11:g.136131033C= , CM000671.1:g.136131033C= | GRCh37 |
| NC_000009.10:g.135120854C= | NCBI36 |
| NG_006669.1:g.22022G= | |
| NG_006669.2:g.24570G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1114G= | ||
| ENST00000647353.1:n.54-4494G= | ||
| ENST00000679909.1:c.28+19516G= | ENSP00000506089.1:n.28+19516G= | |
| ENST00000453660.3:n.1096G= | ||
| ENST00000538324.2:c.1078G= | ENSP00000483018.1:p.Gly360= | |
| ENST00000611156.4:c.*20G= | ENSP00000483265.1:n.*20G= | |
| NM_020469.2:c.*20G= | NP_065202.2:n.*20G= | |
| NM_020469.3:c.*20G= | NP_065202.2:n.*20G= |