gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49452714 (MID)
Genomes Max Group AF
0.40884148 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58696476T>C , CM000663.2:g.58696476T>C | GRCh38 |
| NC_000001.10:g.59162148T>C , CM000663.1:g.59162148T>C | GRCh37 |
| NC_000001.9:g.58934736T>C | NCBI36 |
| NG_065323.1:g.8616A>G | |
| NG_065323.2:g.8602A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483003.6:n.89-1269A>G | ||
| ENST00000659812.2:c.69-1269A>G | ENSP00000499686.2:n.69-1269A>G | |
| ENST00000697253.1:c.69-1269A>G | ENSP00000513210.1:n.69-1269A>G | |
| ENST00000697254.1:c.69-1269A>G | ENSP00000513211.1:n.69-1269A>G | |
| ENST00000697255.1:c.69-1269A>G | ENSP00000513212.1:n.69-1269A>G | |
| ENST00000697257.1:n.79-1269A>G | ||
| ENST00000697261.1:n.85-1269A>G | ||
| ENST00000697263.1:n.89-1269A>G | ||
| ENST00000697264.1:n.78+3509A>G | ||
| ENST00000472487.6:c.69-1269A>G MANE Select | ENSP00000418734.1:n.69-1269A>G | |
| ENST00000655340.1:c.69-1269A>G | ENSP00000499373.1:n.69-1269A>G | |
| ENST00000659108.1:c.69-1269A>G | ENSP00000499571.1:n.69-1269A>G | |
| ENST00000659812.1:c.16-1269A>G | ||
| ENST00000665648.1:c.69-1269A>G | ENSP00000499586.1:n.69-1269A>G | |
| ENST00000466774.5:n.97-1269A>G | ||
| ENST00000472487.5:c.69-1269A>G | ENSP00000418734.1:n.69-1269A>G | |
| ENST00000483003.5:n.89-1269A>G | ||
| ENST00000489282.1:n.94-1269A>G | ||
| NM_001085487.2:c.69-1269A>G | NP_001078956.1:n.69-1269A>G | |
| XM_006710314.2:c.69-1269A>G | XP_006710377.1:n.69-1269A>G | |
| XM_011540573.1:c.-133-1269A>G | XP_011538875.1:n.-133-1269A>G | |
| XR_246231.3:n.109-1269A>G | ||
| XR_946533.1:n.109-1269A>G | ||
| XM_006710314.3:c.69-1269A>G | XP_006710377.1:n.69-1269A>G | |
| XM_011540573.3:c.-133-1269A>G | XP_011538875.1:n.-133-1269A>G | |
| XM_011540574.2:c.-450-1269A>G | XP_011538876.1:n.-450-1269A>G | |
| XR_246231.4:n.108-1269A>G | ||
| XR_946533.2:n.108-1269A>G | ||
| NM_001085487.3:c.69-1269A>G MANE Select | NP_001078956.1:n.69-1269A>G |