gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Genomes Max Group AF
0.00001921 (AFR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114403926G>A , CM000671.2:g.114403926G>A | GRCh38 |
| NC_000009.11:g.117166206G>A , CM000671.1:g.117166206G>A | GRCh37 |
| NC_000009.10:g.116206027G>A | NCBI36 |
| NG_016700.1:g.106531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.732C>T | ENSP00000514396.1:p.Asn244= | |
| ENST00000362057.4:c.2388C>T MANE Select | ENSP00000354623.3:p.Asn796= | |
| ENST00000674036.8:c.1361C>T | ||
| ENST00000674048.1:n.2269C>T | ||
| ENST00000265134.10:c.1239C>T | ENSP00000265134.6:p.Asn413= | |
| ENST00000362057.3:c.2388C>T | ENSP00000354623.3:p.Asn796= | |
| ENST00000374059.7:c.1335C>T | ENSP00000363172.3:p.Asn445= | |
| NM_001083885.2:c.1239C>T | NP_001077354.2:p.Asn413= | |
| NM_001173425.1:c.2385C>T | NP_001166896.1:p.Asn795= | |
| NM_015404.3:c.2388C>T | NP_056219.3:p.Asn796= | |
| XM_005251897.3:c.1725C>T | XP_005251954.2:p.Asn575= | |
| XM_011518484.1:c.2421C>T | XP_011516786.1:p.Asn807= | |
| XM_011518485.1:c.2421C>T | XP_011516787.1:p.Asn807= | |
| XM_011518486.1:c.2418C>T | XP_011516788.1:p.Asn806= | |
| XM_011518487.1:c.2295C>T | XP_011516789.1:p.Asn765= | |
| XM_011518488.1:c.2178C>T | XP_011516790.1:p.Asn726= | |
| XM_011518495.1:c.1098C>T | XP_011516797.1:p.Asn366= | |
| XR_929747.1:n.3325C>T | ||
| XR_929748.1:n.3223C>T | ||
| NM_001346890.1:c.1335C>T | NP_001333819.1:p.Asn445= | |
| XM_011518486.2:c.2418C>T | XP_011516788.1:p.Asn806= | |
| XM_011518487.2:c.2295C>T | XP_011516789.1:p.Asn765= | |
| XM_011518488.2:c.2178C>T | XP_011516790.1:p.Asn726= | |
| XR_929747.2:n.2636C>T | ||
| XR_929748.2:n.2534C>T | ||
| NM_015404.4:c.2388C>T MANE Select | NP_056219.3:p.Asn796= | |
| NM_001173425.2:c.2385C>T | NP_001166896.1:p.Asn795= | |
| NM_001083885.3:c.1239C>T | NP_001077354.2:p.Asn413= |