gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68861449 (AFR)
Genomes Max Group AF
0.68908146 (AFR)
Exomes Max Group AF
0.68613257 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109912954A>G , CM000666.2:g.109912954A>G | GRCh38 |
| NC_000004.11:g.110834110A>G , CM000666.1:g.110834110A>G | GRCh37 |
| NC_000004.10:g.111053559A>G | NCBI36 |
| NG_011441.1:g.5071A>G | |
| NG_011441.2:g.5071A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265171.10:c.-382A>G MANE Select | ENSP00000265171.5:n.-382A>G | |
| ENST00000652245.1:c.-382A>G | ENSP00000498337.1:n.-382A>G | |
| ENST00000265171.9:c.-382A>G | ENSP00000265171.5:n.-382A>G | |
| ENST00000509793.5:c.-382A>G | ENSP00000424316.1:n.-382A>G | |
| NM_001178130.1:c.-382A>G | NP_001171601.1:n.-382A>G | |
| NM_001178131.1:c.-382A>G | NP_001171602.1:n.-382A>G | |
| NM_001963.4:c.-382A>G | NP_001954.2:n.-382A>G | |
| XM_005262796.2:c.-382A>G | XP_005262853.1:n.-382A>G | |
| XM_005262797.2:c.-382A>G | XP_005262854.1:n.-382A>G | |
| XM_005262798.2:c.-382A>G | XP_005262855.1:n.-382A>G | |
| XM_005262800.2:c.-382A>G | XP_005262857.1:n.-382A>G | |
| XM_005262801.2:c.-382A>G | XP_005262858.1:n.-382A>G | |
| XM_005262802.2:c.-382A>G | XP_005262859.1:n.-382A>G | |
| XM_006714124.2:c.-382A>G | XP_006714187.1:n.-382A>G | |
| XM_011531708.1:c.-382A>G | XP_011530010.1:n.-382A>G | |
| XM_011531709.1:c.-382A>G | XP_011530011.1:n.-382A>G | |
| XR_427532.2:n.72A>G | ||
| XR_938699.1:n.72A>G | ||
| NM_001178130.2:c.-382A>G | NP_001171601.1:n.-382A>G | |
| NM_001178131.2:c.-382A>G | NP_001171602.1:n.-382A>G | |
| NM_001357021.1:c.-382A>G | NP_001343950.1:n.-382A>G | |
| NM_001963.5:c.-382A>G | NP_001954.2:n.-382A>G | |
| XM_017007845.1:c.-382A>G | XP_016863334.1:n.-382A>G | |
| XM_017007846.1:c.-382A>G | XP_016863335.1:n.-382A>G | |
| XM_017007847.1:c.-382A>G | XP_016863336.1:n.-382A>G | |
| XM_017007848.1:c.-382A>G | XP_016863337.1:n.-382A>G | |
| XM_017007849.1:c.-382A>G | XP_016863338.1:n.-382A>G | |
| XM_017007850.1:c.-382A>G | XP_016863339.1:n.-382A>G | |
| XM_017007851.1:c.-382A>G | XP_016863340.1:n.-382A>G | |
| XM_017007853.1:c.-382A>G | XP_016863342.1:n.-382A>G | |
| XM_017007854.1:c.-382A>G | XP_016863343.1:n.-382A>G | |
| XM_017007855.1:c.-382A>G | XP_016863344.1:n.-382A>G | |
| XR_001741156.1:n.72A>G | ||
| XR_001741157.1:n.72A>G | ||
| NM_001178130.3:c.-382A>G | NP_001171601.1:n.-382A>G | |
| NM_001178131.3:c.-382A>G | NP_001171602.1:n.-382A>G | |
| NM_001357021.2:c.-382A>G | NP_001343950.1:n.-382A>G | |
| NM_001963.6:c.-382A>G MANE Select | NP_001954.2:n.-382A>G |