gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454990T>C , CM000676.2:g.20454990T>C | GRCh38 |
| NC_000014.8:g.20923149T>C , CM000676.1:g.20923149T>C | GRCh37 |
| NC_000014.7:g.19992989T>C | NCBI36 |
| NG_008718.1:g.4860T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-307A>G | ENSP00000206542.4:n.-307A>G | |
| ENST00000556252.1:n.64A>G | ||
| ENST00000556439.1:n.100A>G | ||
| NM_017807.3:c.-307A>G | NP_060277.1:n.-307A>G | |
| XM_011536930.1:c.-368A>G | XP_011535232.1:n.-368A>G |