Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255697G= , CM000671.2:g.133255697G= | GRCh38 |
| NC_000009.11:g.136131084G= , CM000671.1:g.136131084G= | GRCh37 |
| NC_000009.10:g.135120905G= | NCBI36 |
| NG_006669.1:g.21971C= | |
| NG_006669.2:g.24519C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1063C= | ||
| ENST00000647353.1:n.54-4545C= | ||
| ENST00000679909.1:c.28+19465C= | ENSP00000506089.1:n.28+19465C= | |
| ENST00000453660.3:n.1045C= | ||
| ENST00000538324.2:c.1031C= | ENSP00000483018.1:p.Pro344= | |
| ENST00000611156.4:c.1031C= | ENSP00000483265.1:p.Pro344= | |
| NM_020469.2:c.1034C= | NP_065202.2:p.Pro345= | |
| NM_020469.3:c.1034C= | NP_065202.2:p.Pro345= |