gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78925357G>C , CM000679.2:g.78925357G>C | GRCh38 |
| NC_000017.10:g.76921439G>C , CM000679.1:g.76921439G>C | GRCh37 |
| NC_000017.9:g.74433034G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262768.11:c.-269C>G MANE Select | ENSP00000262768.6:n.-269C>G | |
| NM_003255.4:c.-269C>G | NP_003246.1:n.-269C>G | |
| NM_003255.5:c.-269C>G MANE Select | NP_003246.1:n.-269C>G |