gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12054598 (MID)
Genomes Max Group AF
0.0975532 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126642144T>C , CM000672.2:g.126642144T>C | GRCh38 |
| NC_000010.10:g.128330713T>C , CM000672.1:g.128330713T>C | GRCh37 |
| NC_000010.9:g.128320703T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488181.3:c.313+4421A>G MANE Select | ENSP00000474558.3:n.313+4421A>G | |
| ENST00000488181.2:c.190+4421A>G | ENSP00000474558.2:n.190+4421A>G | |
| ENST00000657225.1:n.230+4421A>G | ||
| ENST00000488181.1:c.-120+4421A>G | ENSP00000474558.1:n.-120+4421A>G | |
| XM_011539216.1:c.313+4421A>G | XP_011537518.1:n.313+4421A>G | |
| XM_011539219.1:c.-120+4421A>G | XP_011537521.1:n.-120+4421A>G | |
| XM_011539221.1:c.-120+4421A>G | XP_011537523.1:n.-120+4421A>G | |
| XM_011539228.1:c.-120+28097A>G | XP_011537530.1:n.-120+28097A>G | |
| XR_945591.1:n.871+4421A>G | ||
| NM_001350921.1:c.313+4421A>G | NP_001337850.1:n.313+4421A>G | |
| NM_001350922.1:c.313+4421A>G | NP_001337851.1:n.313+4421A>G | |
| NM_001350923.1:c.313+4421A>G | NP_001337852.1:n.313+4421A>G | |
| NR_146939.1:n.343+4421A>G | ||
| XR_002956946.1:n.343+4421A>G | ||
| XR_002956950.1:n.343+4421A>G | ||
| NM_001350921.2:c.313+4421A>G MANE Select | NP_001337850.1:n.313+4421A>G | |
| NM_001350922.2:c.313+4421A>G | NP_001337851.1:n.313+4421A>G | |
| NM_001350923.2:c.313+4421A>G | NP_001337852.1:n.313+4421A>G | |
| NR_146939.2:n.526+4421A>G |