gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171316C>T , CM000668.2:g.33171316C>T | GRCh38 |
| NC_000006.11:g.33139093C>T , CM000668.1:g.33139093C>T | GRCh37 |
| NC_000006.10:g.33247071C>T | NCBI36 |
| NG_011589.1:g.26153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3267G>A MANE Select | ENSP00000339915.2:p.Val1089= | |
| ENST00000341947.6:c.3267G>A | ENSP00000339915.2:p.Val1089= | |
| ENST00000361917.5:c.2946G>A | ENSP00000355123.1:p.Val982= | |
| ENST00000374708.8:c.3009G>A | ENSP00000363840.4:p.Val1003= | |
| ENST00000477772.1:n.273-5500G>A | ||
| NM_080679.2:c.2946G>A | NP_542410.2:p.Val982= | |
| NM_080680.2:c.3267G>A | NP_542411.2:p.Val1089= | |
| NM_080681.2:c.3009G>A | NP_542412.2:p.Val1003= | |
| XM_011514298.1:c.2421G>A | XP_011512600.1:p.Val807= | |
| XM_011514299.1:c.2553G>A | XP_011512601.1:p.Val851= | |
| XM_011514300.1:c.2373G>A | XP_011512602.1:p.Val791= | |
| XM_011514301.1:c.2310G>A | XP_011512603.1:p.Val770= | |
| XM_011514302.1:c.2154G>A | XP_011512604.1:p.Val718= | |
| XM_011514299.2:c.2553G>A | XP_011512601.1:p.Val851= | |
| XM_011514300.2:c.2373G>A | XP_011512602.1:p.Val791= | |
| XM_011514302.2:c.2154G>A | XP_011512604.1:p.Val718= | |
| XM_017010250.1:c.3267G>A | XP_016865739.1:p.Val1089= | |
| XM_017010251.2:c.2085G>A | XP_016865740.1:p.Val695= | |
| NM_080680.3:c.3267G>A MANE Select | NP_542411.2:p.Val1089= | |
| NM_080681.3:c.3009G>A | NP_542412.2:p.Val1003= | |
| NM_080679.3:c.2946G>A | NP_542410.2:p.Val982= |