gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00119428 (NFE)
Genomes Max Group AF
0.00098146 (NFE)
Exomes Max Group AF
0.00119627 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21854758A>G , CM000663.2:g.21854758A>G | GRCh38 |
| NC_000001.10:g.22181251A>G , CM000663.1:g.22181251A>G | GRCh37 |
| NC_000001.9:g.22053838A>G | NCBI36 |
| NG_016740.1:g.87500T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6141T>C MANE Select | ENSP00000363827.3:p.Asp2047= | |
| ENST00000374695.7:c.6141T>C | ENSP00000363827.3:p.Asp2047= | |
| NM_001291860.1:c.6144T>C | NP_001278789.1:p.Asp2048= | |
| NM_005529.6:c.6141T>C | NP_005520.4:p.Asp2047= | |
| XM_006710594.2:c.6687T>C | XP_006710657.1:p.Asp2229= | |
| XM_006710595.2:c.6639T>C | XP_006710658.1:p.Asp2213= | |
| XM_006710596.2:c.6618T>C | XP_006710659.1:p.Asp2206= | |
| XM_006710597.2:c.6141T>C | XP_006710660.1:p.Asp2047= | |
| XM_011541317.1:c.6690T>C | XP_011539619.1:p.Asp2230= | |
| XM_011541318.1:c.6690T>C | XP_011539620.1:p.Asp2230= | |
| XM_011541319.1:c.6690T>C | XP_011539621.1:p.Asp2230= | |
| XM_011541320.1:c.6690T>C | XP_011539622.1:p.Asp2230= | |
| XM_011541321.1:c.6195T>C | XP_011539623.1:p.Asp2065= | |
| XM_011541322.1:c.6690T>C | XP_011539624.1:p.Asp2230= | |
| XM_011541318.2:c.6690T>C | XP_011539620.1:p.Asp2230= | |
| XM_017001120.1:c.6336T>C | XP_016856609.1:p.Asp2112= | |
| XM_017001121.1:c.6285T>C | XP_016856610.1:p.Asp2095= | |
| XM_017001122.1:c.6282T>C | XP_016856611.1:p.Asp2094= | |
| NM_005529.7:c.6141T>C MANE Select | NP_005520.4:p.Asp2047= | |
| NM_001291860.2:c.6144T>C | NP_001278789.1:p.Asp2048= |