Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255870G>A , CM000671.2:g.133255870G>A | GRCh38 |
| NC_000009.11:g.136131257G>A , CM000671.1:g.136131257G>A | GRCh37 |
| NC_000009.10:g.135121078G>A | NCBI36 |
| NG_006669.1:g.21798C>T | |
| NG_006669.2:g.24346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.890C>T | ||
| ENST00000647353.1:n.54-4718C>T | ||
| ENST00000679909.1:c.28+19292C>T | ENSP00000506089.1:n.28+19292C>T | |
| ENST00000453660.3:n.872C>T | ||
| ENST00000538324.2:c.858C>T | ENSP00000483018.1:p.Ala286= | |
| ENST00000611156.4:c.858C>T | ENSP00000483265.1:p.Ala286= | |
| NM_020469.2:c.861C>T | NP_065202.2:p.Ala287= | |
| NM_020469.3:c.861C>T | NP_065202.2:p.Ala287= |