Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255708G= , CM000671.2:g.133255708G= | GRCh38 |
| NC_000009.11:g.136131095G= , CM000671.1:g.136131095G= | GRCh37 |
| NC_000009.10:g.135120916G= | NCBI36 |
| NG_006669.1:g.21960C= | |
| NG_006669.2:g.24508C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.1052C= | ||
| ENST00000647353.1:n.54-4556C= | ||
| ENST00000679909.1:c.28+19454C= | ENSP00000506089.1:n.28+19454C= | |
| ENST00000453660.3:n.1034C= | ||
| ENST00000538324.2:c.1020C= | ENSP00000483018.1:p.Phe340= | |
| ENST00000611156.4:c.1020C= | ENSP00000483265.1:p.Phe340= | |
| NM_020469.2:c.1023C= | NP_065202.2:p.Phe341= | |
| NM_020469.3:c.1023C= | NP_065202.2:p.Phe341= |