gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404220A>T , CM000666.2:g.73404220A>T | GRCh38 |
| NC_000004.11:g.74269937A>T , CM000666.1:g.74269937A>T | GRCh37 |
| NC_000004.10:g.74488801A>T | NCBI36 |
| NG_009291.1:g.4966A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441319.5:c.48-149A>T | ENSP00000392541.1:n.48-149A>T |