dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11988951 (NFE)
Genomes Max Group AF
0.12077129 (NFE)
Exomes Max Group AF
0.11572457 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177265343C>T , CM000664.2:g.177265343C>T | GRCh38 |
| NC_000002.11:g.178130071C>T , CM000664.1:g.178130071C>T | GRCh37 |
| NC_000002.10:g.177838317C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586532.6:c.43-31072G>A | ENSP00000464920.2:n.43-31072G>A | |
| ENST00000588123.2:c.-4+18257G>A | ENSP00000468089.2:n.-4+18257G>A | |
| ENST00000699265.1:c.43-31072G>A | ENSP00000514246.1:n.43-31072G>A | |
| ENST00000699301.1:c.43-31072G>A | ENSP00000514281.1:n.43-31072G>A | |
| ENST00000699303.1:c.43-31072G>A | ENSP00000514283.1:n.43-31072G>A | |
| ENST00000699304.1:c.43-31072G>A | ENSP00000514284.1:n.43-31072G>A | |
| ENST00000699305.1:c.43-31072G>A | ENSP00000514285.1:n.43-31072G>A | |
| ENST00000699308.1:c.43-31072G>A | ENSP00000514287.1:n.43-31072G>A | |
| ENST00000699309.1:c.43-31072G>A | ENSP00000514288.1:n.43-31072G>A | |
| ENST00000699330.1:c.-4+22268G>A | ENSP00000514304.1:n.-4+22268G>A | |
| ENST00000699331.1:c.43-31072G>A | ENSP00000514305.1:n.43-31072G>A | |
| ENST00000699344.1:c.7-31072G>A | ENSP00000514319.1:n.7-31072G>A | |
| ENST00000699345.1:c.43-31072G>A | ENSP00000514320.1:n.43-31072G>A | |
| ENST00000699346.1:c.184-31072G>A | ENSP00000514321.1:n.184-31072G>A | |
| ENST00000699348.1:c.43-31072G>A | ENSP00000514323.1:n.43-31072G>A | |
| ENST00000699350.1:c.43-31072G>A | ENSP00000514324.1:n.43-31072G>A | |
| ENST00000699352.1:c.43-31072G>A | ENSP00000514326.1:n.43-31072G>A | |
| ENST00000699353.1:c.184-31072G>A | ENSP00000514327.1:n.184-31072G>A | |
| ENST00000699404.1:c.43-31072G>A | ENSP00000514365.1:n.43-31072G>A | |
| ENST00000699406.1:c.43-31072G>A | ENSP00000514367.1:n.43-31072G>A | |
| ENST00000699408.1:c.-156-24817G>A | ENSP00000514369.1:n.-156-24817G>A | |
| ENST00000699409.1:c.-4+22268G>A | ENSP00000514370.1:n.-4+22268G>A | |
| ENST00000699410.1:c.43-31072G>A | ENSP00000514371.1:n.43-31072G>A | |
| ENST00000699411.1:c.7-31072G>A | ENSP00000514372.1:n.7-31072G>A | |
| ENST00000699412.1:c.7-31072G>A | ENSP00000514373.1:n.7-31072G>A | |
| ENST00000699413.1:n.1052+22268G>A | ||
| ENST00000699414.1:n.901+22268G>A | ||
| ENST00000699434.1:c.-4+22268G>A | ENSP00000514386.1:n.-4+22268G>A | |
| ENST00000699435.1:c.43-31072G>A | ENSP00000514387.1:n.43-31072G>A | |
| ENST00000464747.5:c.-3-31072G>A | ENSP00000467401.1:n.-3-31072G>A | |
| ENST00000586532.5:c.43-31072G>A | ENSP00000464920.1:n.43-31072G>A | |
| ENST00000588123.1:c.-4+18257G>A | ENSP00000468089.1:n.-4+18257G>A |