Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255834C>A , CM000671.2:g.133255834C>A | GRCh38 |
| NC_000009.11:g.136131221C>A , CM000671.1:g.136131221C>A | GRCh37 |
| NC_000009.10:g.135121042C>A | NCBI36 |
| NG_006669.1:g.21834G>T | |
| NG_006669.2:g.24382G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.926G>T | ||
| ENST00000647353.1:n.54-4682G>T | ||
| ENST00000679909.1:c.28+19328G>T | ENSP00000506089.1:n.28+19328G>T | |
| ENST00000453660.3:n.908G>T | ||
| ENST00000538324.2:c.894G>T | ENSP00000483018.1:p.Val298= | |
| ENST00000611156.4:c.894G>T | ENSP00000483265.1:p.Val298= | |
| NM_020469.2:c.897G>T | NP_065202.2:p.Val299= | |
| NM_020469.3:c.897G>T | NP_065202.2:p.Val299= |