Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255652C= , CM000671.2:g.133255652C= | GRCh38 |
| NC_000009.11:g.136131039C= , CM000671.1:g.136131039C= | GRCh37 |
| NC_000009.10:g.135120860C= | NCBI36 |
| NG_006669.1:g.22016G= | |
| NG_006669.2:g.24564G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1108G= | ||
| ENST00000647353.1:n.54-4500G= | ||
| ENST00000679909.1:c.28+19510G= | ENSP00000506089.1:n.28+19510G= | |
| ENST00000453660.3:n.1090G= | ||
| ENST00000538324.2:c.1072G= | ENSP00000483018.1:p.Ala358= | |
| ENST00000611156.4:c.*14G= | ENSP00000483265.1:n.*14G= | |
| NM_020469.2:c.*14G= | NP_065202.2:n.*14G= | |
| NM_020469.3:c.*14G= | NP_065202.2:n.*14G= |