gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586781G>T , CM000679.2:g.41586781G>T | GRCh38 |
| NC_000017.10:g.39743033G>T , CM000679.1:g.39743033G>T | GRCh37 |
| NC_000017.9:g.36996559G>T | NCBI36 |
| NG_008624.1:g.5115C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.54C>A MANE Select | ENSP00000167586.6:p.Cys18Ter | |
| ENST00000167586.6:c.54C>A | ENSP00000167586.6:p.Cys18Ter | |
| NM_000526.4:c.54C>A | NP_000517.2:p.Cys18Ter | |
| NM_000526.5:c.54C>A MANE Select | NP_000517.3:p.Cys18Ter |