gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00152585 (MID)
Genomes Max Group AF
0.00017146 (AMR)
Exomes Max Group AF
0.00160406 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129492462G>A , CM000668.2:g.129492462G>A | GRCh38 |
| NC_000006.11:g.129813607G>A , CM000668.1:g.129813607G>A | GRCh37 |
| NC_000006.10:g.129855300G>A | NCBI36 |
| NG_008678.1:g.614322G>A , LRG_409:g.614322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.288G>A | ENSP00000510626.1:p.Thr96= | |
| ENST00000498257.6:c.288G>A | ENSP00000510533.1:p.Thr96= | |
| ENST00000617695.5:c.8211G>A | ENSP00000481744.2:p.Thr2737= | |
| ENST00000618192.5:c.8487G>A | ENSP00000480802.2:p.Thr2829= | |
| ENST00000688198.1:n.1201G>A | ||
| ENST00000688799.1:c.288G>A | ENSP00000508458.1:p.Thr96= | |
| ENST00000690858.1:n.1217G>A | ||
| ENST00000421865.3:c.8223G>A MANE Select | ENSP00000400365.2:p.Thr2741= | |
| ENST00000421865.2:c.8223G>A | ENSP00000400365.2:p.Thr2741= | |
| ENST00000498257.5:n.536G>A | ||
| ENST00000617695.4:c.8211G>A | ENSP00000481744.1:p.Thr2737= | |
| ENST00000618192.4:c.8220G>A | ENSP00000480802.1:p.Thr2740= | |
| NM_000426.3:c.8223G>A , LRG_409t1:c.8223G>A | NP_000417.2:p.Thr2741= | |
| NM_001079823.1:c.8211G>A | NP_001073291.1:p.Thr2737= | |
| XM_005266981.2:c.8487G>A | XP_005267038.1:p.Thr2829= | |
| XM_005266982.2:c.8475G>A | XP_005267039.1:p.Thr2825= | |
| XM_011535820.1:c.8481G>A | XP_011534122.1:p.Thr2827= | |
| XM_005266981.3:c.8487G>A | XP_005267038.1:p.Thr2829= | |
| XM_005266982.3:c.8475G>A | XP_005267039.1:p.Thr2825= | |
| XM_011535820.2:c.8481G>A | XP_011534122.1:p.Thr2827= | |
| XM_017010851.2:c.8493G>A | XP_016866340.1:p.Thr2831= | |
| XM_017010852.1:c.6618G>A | XP_016866341.1:p.Thr2206= | |
| NM_000426.4:c.8223G>A MANE Select | NP_000417.3:p.Thr2741= | |
| NM_001079823.2:c.8211G>A | NP_001073291.2:p.Thr2737= |