Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255662C>T , CM000671.2:g.133255662C>T | GRCh38 |
| NC_000009.11:g.136131049C>T , CM000671.1:g.136131049C>T | GRCh37 |
| NC_000009.10:g.135120870C>T | NCBI36 |
| NG_006669.1:g.22006G>A | |
| NG_006669.2:g.24554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1098G>A | ||
| ENST00000647353.1:n.54-4510G>A | ||
| ENST00000679909.1:c.28+19500G>A | ENSP00000506089.1:n.28+19500G>A | |
| ENST00000453660.3:n.1080G>A | ||
| ENST00000538324.2:c.1062G>A | ENSP00000483018.1:p.Arg354= | |
| ENST00000611156.4:c.*4G>A | ENSP00000483265.1:n.*4G>A | |
| NM_020469.2:c.*4G>A | NP_065202.2:n.*4G>A | |
| NM_020469.3:c.*4G>A | NP_065202.2:n.*4G>A |