gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53958334C>T , CM000676.2:g.53958334C>T | GRCh38 |
| NC_000014.8:g.54425052C>T , CM000676.1:g.54425052C>T | GRCh37 |
| NC_000014.7:g.53494802C>T | NCBI36 |
| NG_009215.1:g.3503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559642.1:c.-133+386G>A | ENSP00000453467.1:n.-133+386G>A |