gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59605562 (AFR)
Genomes Max Group AF
0.59605562 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.82864153C>G , CM000673.2:g.82864153C>G | GRCh38 |
| NC_000011.9:g.82575195C>G , CM000673.1:g.82575195C>G | GRCh37 |
| NC_000011.8:g.82252843C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313010.8:c.169-4036G>C MANE Select | ENSP00000317362.3:n.169-4036G>C | |
| ENST00000524642.6:n.197-4036G>C | ||
| ENST00000527444.6:n.197-4036G>C | ||
| ENST00000528082.6:c.-177-4036G>C | ENSP00000435071.2:n.-177-4036G>C | |
| ENST00000531283.2:n.197-4036G>C | ||
| ENST00000531801.6:c.-147-4036G>C | ENSP00000432004.2:n.-147-4036G>C | |
| ENST00000532809.2:c.7-4036G>C | ENSP00000437169.2:n.7-4036G>C | |
| ENST00000679387.1:c.-147-4036G>C | ENSP00000506058.1:n.-147-4036G>C | |
| ENST00000679623.1:c.-147-4036G>C | ENSP00000506508.1:n.-147-4036G>C | |
| ENST00000680437.1:c.169-4036G>C | ENSP00000505089.1:n.169-4036G>C | |
| ENST00000680524.1:c.-183-24728G>C | ENSP00000506464.1:n.-183-24728G>C | |
| ENST00000680566.1:c.-147-4036G>C | ENSP00000505064.1:n.-147-4036G>C | |
| ENST00000681155.1:n.226-4036G>C | ||
| ENST00000681322.1:c.169-4036G>C | ENSP00000506444.1:n.169-4036G>C | |
| ENST00000681637.1:c.-147-4036G>C | ENSP00000506101.1:n.-147-4036G>C | |
| ENST00000313010.7:c.169-4036G>C | ENSP00000317362.3:n.169-4036G>C | |
| ENST00000393399.6:c.232-4036G>C | ENSP00000377055.2:n.232-4036G>C | |
| ENST00000527444.5:c.-147-4036G>C | ENSP00000436141.1:n.-147-4036G>C | |
| ENST00000528082.5:c.-147-4036G>C | ENSP00000435071.1:n.-147-4036G>C | |
| ENST00000529671.5:c.46-4036G>C | ENSP00000434771.1:n.46-4036G>C | |
| ENST00000531128.5:c.-6-10875G>C | ENSP00000431435.1:n.-6-10875G>C | |
| ENST00000531801.5:c.-147-4036G>C | ENSP00000432004.1:n.-147-4036G>C | |
| ENST00000532809.1:c.7-4036G>C | ENSP00000437169.1:n.7-4036G>C | |
| ENST00000533126.1:c.-147-4036G>C | ENSP00000431496.1:n.-147-4036G>C | |
| ENST00000534396.5:c.-147-4036G>C | ENSP00000432506.1:n.-147-4036G>C | |
| ENST00000534631.5:c.-6-10875G>C | ENSP00000431559.1:n.-6-10875G>C | |
| NM_005040.2:c.169-4036G>C | NP_005031.1:n.169-4036G>C | |
| NM_199418.2:c.232-4036G>C | NP_955450.2:n.232-4036G>C | |
| XM_005274093.1:c.-147-4036G>C | XP_005274150.1:n.-147-4036G>C | |
| NM_001319214.1:c.-6-10875G>C | NP_001306143.1:n.-6-10875G>C | |
| NM_005040.3:c.169-4036G>C | NP_005031.1:n.169-4036G>C | |
| NM_199418.3:c.232-4036G>C | NP_955450.2:n.232-4036G>C | |
| NM_005040.4:c.169-4036G>C MANE Select | NP_005031.1:n.169-4036G>C | |
| NM_001319214.2:c.-6-10875G>C | NP_001306143.1:n.-6-10875G>C | |
| NM_199418.4:c.232-4036G>C | NP_955450.2:n.232-4036G>C |