gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583687G>C , CM000679.2:g.41583687G>C | GRCh38 |
| NC_000017.10:g.39739939G>C , CM000679.1:g.39739939G>C | GRCh37 |
| NC_000017.9:g.36993465G>C | NCBI36 |
| NG_008624.1:g.8209C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.928-11C>G MANE Select | ENSP00000167586.6:n.928-11C>G | |
| ENST00000167586.6:c.928-11C>G | ENSP00000167586.6:n.928-11C>G | |
| ENST00000476662.1:n.378-11C>G | ||
| NM_000526.4:c.928-11C>G | NP_000517.2:n.928-11C>G | |
| NM_000526.5:c.928-11C>G MANE Select | NP_000517.3:n.928-11C>G |