gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00112297 (NFE)
Genomes Max Group AF
0.00175328 (NFE)
Exomes Max Group AF
0.00107032 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33165616T>C , CM000668.2:g.33165616T>C | GRCh38 |
| NC_000006.11:g.33133393T>C , CM000668.1:g.33133393T>C | GRCh37 |
| NC_000006.10:g.33241371T>C | NCBI36 |
| NG_011589.1:g.31853A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.489A>G | ||
| ENST00000341947.7:c.4683A>G MANE Select | ENSP00000339915.2:p.Thr1561= | |
| ENST00000341947.6:c.4683A>G | ENSP00000339915.2:p.Thr1561= | |
| ENST00000361917.5:c.4362A>G | ENSP00000355123.1:p.Thr1454= | |
| ENST00000374708.8:c.4425A>G | ENSP00000363840.4:p.Thr1475= | |
| ENST00000477772.1:n.473A>G | ||
| NM_080679.2:c.4362A>G | NP_542410.2:p.Thr1454= | |
| NM_080680.2:c.4683A>G | NP_542411.2:p.Thr1561= | |
| NM_080681.2:c.4425A>G | NP_542412.2:p.Thr1475= | |
| XM_011514298.1:c.3837A>G | XP_011512600.1:p.Thr1279= | |
| XM_011514299.1:c.3969A>G | XP_011512601.1:p.Thr1323= | |
| XM_011514300.1:c.3789A>G | XP_011512602.1:p.Thr1263= | |
| XM_011514301.1:c.3726A>G | XP_011512603.1:p.Thr1242= | |
| XM_011514302.1:c.3570A>G | XP_011512604.1:p.Thr1190= | |
| XM_011514299.2:c.3969A>G | XP_011512601.1:p.Thr1323= | |
| XM_011514300.2:c.3789A>G | XP_011512602.1:p.Thr1263= | |
| XM_011514302.2:c.3570A>G | XP_011512604.1:p.Thr1190= | |
| XM_017010250.1:c.4683A>G | XP_016865739.1:p.Thr1561= | |
| XM_017010251.2:c.3501A>G | XP_016865740.1:p.Thr1167= | |
| NM_080680.3:c.4683A>G MANE Select | NP_542411.2:p.Thr1561= | |
| NM_080681.3:c.4425A>G | NP_542412.2:p.Thr1475= | |
| NM_080679.3:c.4362A>G | NP_542410.2:p.Thr1454= |