gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7961680G>T , CM000663.2:g.7961680G>T | GRCh38 |
| NC_000001.10:g.8021740G>T , CM000663.1:g.8021740G>T | GRCh37 |
| NC_000001.9:g.7944327G>T | NCBI36 |
| NG_008271.1:g.5027G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.9:c.-137G>T | ENSP00000340278.5:n.-137G>T | |
| ENST00000460192.5:n.18G>T | ||
| ENST00000493373.5:c.-23-1083G>T | ENSP00000465404.1:n.-23-1083G>T | |
| NM_001123377.1:c.-79G>T | NP_001116849.1:n.-79G>T | |
| NM_007262.4:c.-137G>T | NP_009193.2:n.-137G>T |