gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28306709 (MID)
Genomes Max Group AF
0.25956505 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58716960T>G , CM000680.2:g.58716960T>G | GRCh38 |
| NC_000018.9:g.56384192T>G , CM000680.1:g.56384192T>G | GRCh37 |
| NC_000018.8:g.54535172T>G | NCBI36 |
| NG_033893.1:g.50575T>G | |
| NG_033893.2:g.50575T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697045.1:n.829+993T>G | ||
| ENST00000697046.1:n.127+993T>G | ||
| ENST00000697098.1:n.761+993T>G | ||
| ENST00000697099.1:n.626+993T>G | ||
| ENST00000648670.1:c.629+993T>G | ENSP00000497173.1:n.629+993T>G | |
| ENST00000649125.1:n.844+993T>G | ||
| ENST00000649202.1:n.622+993T>G | ||
| ENST00000649217.2:c.1018+993T>G MANE Select | ENSP00000497997.1:n.1018+993T>G | |
| ENST00000650045.1:c.1018+993T>G | ENSP00000497036.1:n.1018+993T>G | |
| ENST00000345724.7:c.985+993T>G | ENSP00000304161.3:n.985+993T>G | |
| ENST00000348428.7:c.1018+993T>G | ENSP00000319279.4:n.1018+993T>G | |
| NM_006785.3:c.1018+993T>G | NP_006776.1:n.1018+993T>G | |
| NM_173844.2:c.985+993T>G | NP_776216.1:n.985+993T>G | |
| XM_011525794.1:c.1018+993T>G | XP_011524096.1:n.1018+993T>G | |
| XR_935190.1:n.1242+993T>G | ||
| XR_935538.1:n.78-19693A>C | ||
| NM_006785.4:c.1018+993T>G MANE Select | NP_006776.1:n.1018+993T>G | |
| XR_001753134.1:n.1242+993T>G | ||
| XR_001753135.1:n.1209+993T>G | ||
| XR_001753136.1:n.1242+993T>G | ||
| NM_173844.3:c.985+993T>G | NP_776216.1:n.985+993T>G |