gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519137G>A , CM000674.2:g.52519137G>A | GRCh38 |
| NC_000012.11:g.52912921G>A , CM000674.1:g.52912921G>A | GRCh37 |
| NC_000012.10:g.51199188G>A | NCBI36 |
| NG_008297.1:g.6323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.579C>T MANE Select | ENSP00000252242.4:p.Asn193= | |
| ENST00000252242.8:c.579C>T | ENSP00000252242.4:p.Asn193= | |
| ENST00000549420.1:c.249C>T | ENSP00000447209.1:p.Asn83= | |
| ENST00000551013.1:n.107C>T | ||
| ENST00000552629.5:n.677C>T | ||
| NM_000424.3:c.579C>T | NP_000415.2:p.Asn193= | |
| NM_000424.4:c.579C>T MANE Select | NP_000415.2:p.Asn193= |