gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6382842G>C , CM000674.2:g.6382842G>C | GRCh38 |
| NC_000012.11:g.6492008G>C , CM000674.1:g.6492008G>C | GRCh37 |
| NC_000012.10:g.6362269G>C | NCBI36 |
| NG_033039.1:g.12475G>C | |
| NG_033039.2:g.12475G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539925.5:c.40-1746G>C | ENSP00000440875.1:n.40-1746G>C | |
| ENST00000542830.5:n.266-1746G>C | ||
| ENST00000546296.5:n.551-1746G>C | ||
| NM_001270987.1:c.40-1746G>C | NP_001257916.1:n.40-1746G>C | |
| NM_001270987.2:c.40-1746G>C | NP_001257916.1:n.40-1746G>C |