gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75475871A>C , CM000678.2:g.75475871A>C | GRCh38 |
| NC_000016.9:g.75509769A>C , CM000678.1:g.75509769A>C | GRCh37 |
| NC_000016.8:g.74067270A>C | NCBI36 |
| NG_016442.1:g.24158T>G | |
| NG_016442.2:g.24571T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.*2770T>G MANE Select | ENSP00000328983.4:n.*2770T>G | |
| ENST00000649341.1:c.*109-2404T>G | ENSP00000497635.1:n.*109-2404T>G | |
| ENST00000649824.1:c.*557+2213T>G | ENSP00000496806.1:n.*557+2213T>G | |
| ENST00000332272.8:c.*2770T>G | ENSP00000328983.4:n.*2770T>G | |
| NM_021615.4:c.*2770T>G | NP_067628.1:n.*2770T>G | |
| NM_021615.5:c.*2770T>G MANE Select | NP_067628.1:n.*2770T>G | |
| NR_163480.1:n.734-2404T>G | ||
| NR_163481.1:n.578-2404T>G |