gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784993T>C , CM000666.2:g.71784993T>C | GRCh38 |
| NC_000004.11:g.72650710T>C , CM000666.1:g.72650710T>C | GRCh37 |
| NC_000004.10:g.72869574T>C | NCBI36 |
| NG_012837.2:g.25528A>G | |
| NG_012837.3:g.25528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504199.5:c.22-939A>G | ENSP00000421725.1:n.22-939A>G | |
| ENST00000506245.1:c.-37+927A>G | ENSP00000426718.1:n.-37+927A>G | |
| NM_001204306.1:c.-36-939A>G | NP_001191235.1:n.-36-939A>G | |
| NM_001204307.1:c.22-939A>G | NP_001191236.1:n.22-939A>G |