gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11419033T>G , CM000670.2:g.11419033T>G | GRCh38 |
| NC_000008.10:g.11276542T>G , CM000670.1:g.11276542T>G | GRCh37 |
| NC_000008.9:g.11313952T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_026814.1:n.341-14887T>G |