gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00790254 (AFR)
Genomes Max Group AF
0.00790254 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40765760A>C , CM000667.2:g.40765760A>C | GRCh38 |
| NC_000005.9:g.40765862A>C , CM000667.1:g.40765862A>C | GRCh37 |
| NC_000005.8:g.40801619A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397128.7:c.822-522T>G MANE Select | ENSP00000380317.2:n.822-522T>G | |
| ENST00000354209.7:c.867-522T>G | ENSP00000346148.3:n.867-522T>G | |
| ENST00000397128.6:c.822-522T>G | ENSP00000380317.2:n.822-522T>G | |
| ENST00000505783.5:n.451-522T>G | ||
| ENST00000506652.5:n.781-522T>G | ||
| NM_006251.5:c.822-522T>G | NP_006242.5:n.822-522T>G | |
| NM_206907.3:c.867-522T>G | NP_996790.3:n.867-522T>G | |
| XM_006714482.1:c.48-522T>G | XP_006714545.1:n.48-522T>G | |
| NM_001355028.1:c.744-522T>G | NP_001341957.1:n.744-522T>G | |
| NM_001355029.1:c.390-522T>G | NP_001341958.1:n.390-522T>G | |
| NM_001355035.1:c.48-522T>G | NP_001341964.1:n.48-522T>G | |
| NM_001355036.1:c.48-522T>G | NP_001341965.1:n.48-522T>G | |
| NM_001355037.1:c.48-522T>G | NP_001341966.1:n.48-522T>G | |
| XM_017009624.1:c.789-522T>G | XP_016865113.1:n.789-522T>G | |
| XM_017009625.2:c.744-522T>G | XP_016865114.1:n.744-522T>G | |
| NM_001355028.2:c.744-522T>G | NP_001341957.1:n.744-522T>G | |
| NM_001355029.2:c.390-522T>G | NP_001341958.1:n.390-522T>G | |
| NM_001355035.2:c.48-522T>G | NP_001341964.1:n.48-522T>G | |
| NM_001355036.2:c.48-522T>G | NP_001341965.1:n.48-522T>G | |
| NM_001355037.2:c.48-522T>G | NP_001341966.1:n.48-522T>G | |
| NM_006251.6:c.822-522T>G MANE Select | NP_006242.5:n.822-522T>G | |
| NM_206907.4:c.867-522T>G | NP_996790.3:n.867-522T>G |