Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256126C= , CM000671.2:g.133256126C= | GRCh38 |
| NC_000009.11:g.136131513C= , CM000671.1:g.136131513C= | GRCh37 |
| NC_000009.10:g.135121334C= | NCBI36 |
| NG_006669.1:g.21542G= | |
| NG_006669.2:g.24090G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.634G= | ||
| ENST00000647353.1:n.54-4974G= | ||
| ENST00000651471.1:n.560G= | ||
| ENST00000679909.1:c.28+19036G= | ENSP00000506089.1:n.28+19036G= | |
| ENST00000453660.3:n.616G= | ||
| ENST00000538324.2:c.602G= | ENSP00000483018.1:p.Ser201= | |
| ENST00000611156.4:c.602G= | ENSP00000483265.1:p.Ser201= | |
| NM_020469.2:c.605G= | NP_065202.2:p.Ser202= | |
| NM_020469.3:c.605G= | NP_065202.2:p.Ser202= |