gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00113909 (NFE)
Genomes Max Group AF
0.00086153 (NFE)
Exomes Max Group AF
0.00114586 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46121102T>C , CM000683.2:g.46121102T>C | GRCh38 |
| NC_000021.8:g.47541016T>C , CM000683.1:g.47541016T>C | GRCh37 |
| NC_000021.7:g.46365444T>C | NCBI36 |
| NG_008675.1:g.27984T>C , LRG_476:g.27984T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1437T>C MANE Plus Clinical | ENSP00000380870.1:p.Ala479= | |
| ENST00000300527.9:c.1437T>C MANE Select | ENSP00000300527.4:p.Ala479= | |
| ENST00000409416.6:c.1437T>C | ENSP00000387115.1:p.Ala479= | |
| ENST00000300527.8:c.1437T>C | ENSP00000300527.4:p.Ala479= | |
| ENST00000310645.9:c.1437T>C | ENSP00000312529.5:p.Ala479= | |
| ENST00000397763.5:c.1437T>C | ENSP00000380870.1:p.Ala479= | |
| ENST00000409416.5:c.1437T>C | ENSP00000387115.1:p.Ala479= | |
| ENST00000413758.1:c.60T>C | ENSP00000395751.1:p.Ala20= | |
| NM_001849.3:c.1437T>C , LRG_476t1:c.1437T>C | NP_001840.3:p.Ala479= | |
| NM_058174.2:c.1437T>C | NP_478054.2:p.Ala479= | |
| NM_058175.2:c.1437T>C | NP_478055.2:p.Ala479= | |
| XM_011529451.1:c.1437T>C | XP_011527753.1:p.Ala479= | |
| XM_011529452.1:c.1437T>C | XP_011527754.1:p.Ala479= | |
| XR_937438.1:n.1560T>C | ||
| XR_937439.1:n.1560T>C | ||
| XR_937438.2:n.1567T>C | ||
| XR_937439.2:n.1567T>C | ||
| NM_001849.4:c.1437T>C MANE Select | NP_001840.3:p.Ala479= | |
| NM_058174.3:c.1437T>C MANE Plus Clinical | NP_478054.2:p.Ala479= | |
| NM_058175.3:c.1437T>C | NP_478055.2:p.Ala479= |