gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82874353 (EAS)
Genomes Max Group AF
0.77854098 (EAS)
Exomes Max Group AF
0.8333396 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40303426G>A , CM000677.2:g.40303426G>A | GRCh38 |
| NC_000015.9:g.40595627G>A , CM000677.1:g.40595627G>A | GRCh37 |
| NC_000015.8:g.38382919G>A | NCBI36 |
| NG_052867.1:g.9548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260402.8:c.163-70C>T MANE Select | ENSP00000260402.3:n.163-70C>T | |
| ENST00000260402.7:c.163-70C>T | ENSP00000260402.3:n.163-70C>T | |
| ENST00000456256.6:c.163-70C>T | ENSP00000411991.2:n.163-70C>T | |
| ENST00000543785.3:c.163-70C>T | ENSP00000444652.2:n.163-70C>T | |
| ENST00000557821.5:c.163-70C>T | ENSP00000453975.1:n.163-70C>T | |
| ENST00000558588.5:n.184-70C>T | ||
| NM_001284297.1:c.163-70C>T | NP_001271226.1:n.163-70C>T | |
| NM_001284298.1:c.163-70C>T | NP_001271227.1:n.163-70C>T | |
| NM_001284299.1:c.163-70C>T | NP_001271228.1:n.163-70C>T | |
| NM_004573.2:c.163-70C>T | NP_004564.2:n.163-70C>T | |
| XM_005254448.1:c.163-70C>T | XP_005254505.1:n.163-70C>T | |
| XM_005254449.2:c.163-70C>T | XP_005254506.1:n.163-70C>T | |
| XM_005254450.1:c.163-70C>T | XP_005254507.1:n.163-70C>T | |
| XM_011521674.1:c.163-70C>T | XP_011519976.1:n.163-70C>T | |
| XM_011521675.1:c.163-70C>T | XP_011519977.1:n.163-70C>T | |
| XM_011521676.1:c.163-70C>T | XP_011519978.1:n.163-70C>T | |
| XM_011521677.1:c.163-70C>T | XP_011519979.1:n.163-70C>T | |
| XR_931845.1:n.439-70C>T | ||
| XM_017022314.2:c.163-70C>T | XP_016877803.1:n.163-70C>T | |
| XM_017022317.2:c.163-70C>T | XP_016877806.1:n.163-70C>T | |
| XM_017022319.2:c.163-70C>T | XP_016877808.1:n.163-70C>T | |
| XM_024449948.1:c.163-70C>T | XP_024305716.1:n.163-70C>T | |
| XM_024449949.1:c.163-70C>T | XP_024305717.1:n.163-70C>T | |
| XM_024449950.1:c.163-70C>T | XP_024305718.1:n.163-70C>T | |
| XM_024449951.1:c.163-70C>T | XP_024305719.1:n.163-70C>T | |
| XM_024449952.1:c.163-70C>T | XP_024305720.1:n.163-70C>T | |
| XR_001751315.2:n.436-70C>T | ||
| XR_001751316.2:n.436-70C>T | ||
| XR_001751317.2:n.436-70C>T | ||
| NM_004573.3:c.163-70C>T MANE Select | NP_004564.2:n.163-70C>T | |
| NM_001284297.2:c.163-70C>T | NP_001271226.1:n.163-70C>T | |
| NM_001284298.2:c.163-70C>T | NP_001271227.1:n.163-70C>T | |
| NM_001284299.2:c.163-70C>T | NP_001271228.1:n.163-70C>T |