gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404193G>C , CM000666.2:g.73404193G>C | GRCh38 |
| NC_000004.11:g.74269910G>C , CM000666.1:g.74269910G>C | GRCh37 |
| NC_000004.10:g.74488774G>C | NCBI36 |
| NG_009291.1:g.4939G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441319.5:c.48-176G>C | ENSP00000392541.1:n.48-176G>C |