gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70909337 (MID)
Genomes Max Group AF
0.6672283 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140456518G>A , CM000665.2:g.140456518G>A | GRCh38 |
| NC_000003.11:g.140175360G>A , CM000665.1:g.140175360G>A | GRCh37 |
| NC_000003.10:g.141658050G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458420.7:c.974-3003G>A MANE Select | ENSP00000402460.2:n.974-3003G>A | |
| ENST00000511524.1:n.1162-3003G>A | ||
| ENST00000620185.1:c.782-3003G>A | ENSP00000478883.1:n.782-3003G>A | |
| NM_022131.2:c.974-3003G>A | NP_071414.2:n.974-3003G>A | |
| XR_924548.1:n.49-1765C>T | ||
| XR_924549.1:n.49-1765C>T | ||
| XM_017007022.2:c.899-3003G>A | XP_016862511.1:n.899-3003G>A | |
| XR_924548.2:n.1503-1765C>T | ||
| XR_924549.2:n.1503-1765C>T | ||
| NM_022131.3:c.974-3003G>A MANE Select | NP_071414.2:n.974-3003G>A |