gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135530435G>T , CM000668.2:g.135530435G>T | GRCh38 |
| NC_000006.11:g.135851573G>T , CM000668.1:g.135851573G>T | GRCh37 |
| NC_000006.10:g.135893266G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_026805.1:n.200+32435G>T | ||
| NR_152842.1:n.314+31918G>T | ||
| NR_152843.1:n.552+11605G>T | ||
| NR_152844.1:n.314+31918G>T | ||
| NR_152845.1:n.438+11605G>T |