gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.21278636C>T , CM000672.2:g.21278636C>T | GRCh38 |
| NC_000010.10:g.21567565C>T , CM000672.1:g.21567565C>T | GRCh37 |
| NC_000010.9:g.21607571C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675702.1:n.182+14194G>A | ||
| NM_001377326.1:c.-40+14194G>A | NP_001364255.1:n.-40+14194G>A | |
| NM_001377327.1:c.-206+14194G>A | NP_001364256.1:n.-206+14194G>A |