Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255442G>A , CM000671.2:g.133255442G>A | GRCh38 |
| NC_000009.11:g.136130829G>A , CM000671.1:g.136130829G>A | GRCh37 |
| NC_000009.10:g.135120650G>A | NCBI36 |
| NG_006669.1:g.22226C>T | |
| NG_006669.2:g.24774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1318C>T | ||
| ENST00000647353.1:n.54-4290C>T | ||
| ENST00000679909.1:c.28+19720C>T | ENSP00000506089.1:n.28+19720C>T | |
| ENST00000453660.3:n.1300C>T | ||
| ENST00000611156.4:c.*224C>T | ENSP00000483265.1:n.*224C>T | |
| NM_020469.2:c.*224C>T | NP_065202.2:n.*224C>T | |
| NM_020469.3:c.*224C>T | NP_065202.2:n.*224C>T |