gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001534 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001461 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934789T>G , CM000676.2:g.87934789T>G | GRCh38 |
| NC_000014.8:g.88401133T>G , CM000676.1:g.88401133T>G | GRCh37 |
| NC_000014.7:g.87470886T>G | NCBI36 |
| NG_011853.2:g.63775A>C | |
| NG_011853.3:g.63775A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.2001A>C MANE Select | ENSP00000261304.2:p.Gly667= | |
| ENST00000261304.6:c.2001A>C | ENSP00000261304.2:p.Gly667= | |
| ENST00000393568.8:c.1932A>C | ENSP00000377198.4:p.Gly644= | |
| ENST00000393569.6:c.1923A>C | ENSP00000377199.2:p.Gly641= | |
| ENST00000544807.6:c.1744-790A>C | ENSP00000437513.2:n.1744-790A>C | |
| ENST00000555000.5:c.1279-790A>C | ENSP00000450472.1:n.1279-790A>C | |
| ENST00000555179.1:c.537A>C | ||
| NM_000153.3:c.2001A>C | NP_000144.2:p.Gly667= | |
| NM_001201401.1:c.1932A>C | NP_001188330.1:p.Gly644= | |
| NM_001201402.1:c.1923A>C | NP_001188331.1:p.Gly641= | |
| XM_011536618.1:c.1833A>C | XP_011534920.1:p.Gly611= | |
| XM_011536618.2:c.1833A>C | XP_011534920.1:p.Gly611= | |
| NM_000153.4:c.2001A>C MANE Select | NP_000144.2:p.Gly667= | |
| NM_001201401.2:c.1932A>C | NP_001188330.1:p.Gly644= | |
| NM_001201402.2:c.1923A>C | NP_001188331.1:p.Gly641= |