gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25015708G>A , CM000685.2:g.25015708G>A | GRCh38 |
| NC_000023.10:g.25033825G>A , CM000685.1:g.25033825G>A | GRCh37 |
| NC_000023.9:g.24943746G>A | NCBI36 |
| NG_008281.1:g.5241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.30C>T MANE Select | ENSP00000368332.4:p.Cys10= | |
| ENST00000636609.1:n.36-63C>T | ||
| ENST00000637394.1:n.68-63C>T | ||
| ENST00000379044.4:c.30C>T | ENSP00000368332.4:p.Cys10= | |
| NM_139058.2:c.30C>T | NP_620689.1:p.Cys10= | |
| NM_139058.3:c.30C>T MANE Select | NP_620689.1:p.Cys10= |