gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01660711 (AFR)
Genomes Max Group AF
0.01595172 (AFR)
Exomes Max Group AF
0.01670565 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114403319C>T , CM000671.2:g.114403319C>T | GRCh38 |
| NC_000009.11:g.117165599C>T , CM000671.1:g.117165599C>T | GRCh37 |
| NC_000009.10:g.116205420C>T | NCBI36 |
| NG_016700.1:g.107138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.783G>A | ENSP00000514396.1:p.Thr261= | |
| ENST00000362057.4:c.2439G>A MANE Select | ENSP00000354623.3:p.Thr813= | |
| ENST00000674036.8:c.1412G>A | ||
| ENST00000674048.1:n.2320G>A | ||
| ENST00000265134.10:c.1290G>A | ENSP00000265134.6:p.Thr430= | |
| ENST00000362057.3:c.2439G>A | ENSP00000354623.3:p.Thr813= | |
| ENST00000374059.7:c.1386G>A | ENSP00000363172.3:p.Thr462= | |
| NM_001083885.2:c.1290G>A | NP_001077354.2:p.Thr430= | |
| NM_001173425.1:c.2436G>A | NP_001166896.1:p.Thr812= | |
| NM_015404.3:c.2439G>A | NP_056219.3:p.Thr813= | |
| XM_005251897.3:c.1776G>A | XP_005251954.2:p.Thr592= | |
| XM_011518484.1:c.2472G>A | XP_011516786.1:p.Thr824= | |
| XM_011518485.1:c.2472G>A | XP_011516787.1:p.Thr824= | |
| XM_011518486.1:c.2469G>A | XP_011516788.1:p.Thr823= | |
| XM_011518487.1:c.2346G>A | XP_011516789.1:p.Thr782= | |
| XM_011518488.1:c.2229G>A | XP_011516790.1:p.Thr743= | |
| XM_011518495.1:c.1149G>A | XP_011516797.1:p.Thr383= | |
| XR_929747.1:n.3376G>A | ||
| XR_929748.1:n.3274G>A | ||
| NM_001346890.1:c.1386G>A | NP_001333819.1:p.Thr462= | |
| XM_011518486.2:c.2469G>A | XP_011516788.1:p.Thr823= | |
| XM_011518487.2:c.2346G>A | XP_011516789.1:p.Thr782= | |
| XM_011518488.2:c.2229G>A | XP_011516790.1:p.Thr743= | |
| XR_929747.2:n.2687G>A | ||
| XR_929748.2:n.2585G>A | ||
| NM_015404.4:c.2439G>A MANE Select | NP_056219.3:p.Thr813= | |
| NM_001173425.2:c.2436G>A | NP_001166896.1:p.Thr812= | |
| NM_001083885.3:c.1290G>A | NP_001077354.2:p.Thr430= |