gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112785383G>T , CM000664.2:g.112785383G>T | GRCh38 |
| NC_000002.11:g.113542960G>T , CM000664.1:g.113542960G>T | GRCh37 |
| NC_000002.10:g.113259431G>T | NCBI36 |
| NG_008850.1:g.5012C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000575.3:c.-949C>A | NP_000566.3:n.-949C>A | |
| NM_000575.4:c.-949C>A | NP_000566.3:n.-949C>A |