gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08697191 (AFR)
Genomes Max Group AF
0.08697191 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.239480871T>G , CM000663.2:g.239480871T>G | GRCh38 |
| NC_000001.10:g.239644171T>G , CM000663.1:g.239644171T>G | GRCh37 |
| NC_000001.9:g.237710794T>G | NCBI36 |
| NG_032046.2:g.98942T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615928.5:c.-421-64770T>G | ENSP00000482377.1:n.-421-64770T>G | |
| ENST00000674678.1:n.281-11838T>G | ||
| ENST00000675184.1:c.-524-11838T>G | ENSP00000502349.1:n.-524-11838T>G | |
| ENST00000676153.1:c.-520-11838T>G MANE Select | ENSP00000502667.1:n.-520-11838T>G | |
| ENST00000468573.5:n.664-11838T>G | ||
| ENST00000481779.1:n.31-11838T>G | ||
| ENST00000492335.5:n.309-11838T>G | ||
| XM_005273032.2:c.-421-64770T>G | XP_005273089.1:n.-421-64770T>G | |
| XM_011544041.1:c.-520-11838T>G | XP_011542343.1:n.-520-11838T>G | |
| XM_011544042.1:c.-1009-11838T>G | XP_011542344.1:n.-1009-11838T>G | |
| XM_011544043.1:c.-853-11838T>G | XP_011542345.1:n.-853-11838T>G | |
| XM_011544044.1:c.-624-11838T>G | XP_011542346.1:n.-624-11838T>G | |
| XM_011544045.1:c.-749-11838T>G | XP_011542347.1:n.-749-11838T>G | |
| XM_011544046.1:c.-457-11838T>G | XP_011542348.1:n.-457-11838T>G | |
| XM_011544047.1:c.-393-11838T>G | XP_011542349.1:n.-393-11838T>G | |
| NM_001347716.1:c.-749-11838T>G | NP_001334645.1:n.-749-11838T>G | |
| XM_005273032.3:c.-421-64770T>G | XP_005273089.1:n.-421-64770T>G | |
| XM_011544041.2:c.-520-11838T>G | XP_011542343.1:n.-520-11838T>G | |
| XM_011544043.2:c.-853-11838T>G | XP_011542345.1:n.-853-11838T>G | |
| XM_011544044.2:c.-624-11838T>G | XP_011542346.1:n.-624-11838T>G | |
| XM_011544046.2:c.-457-11838T>G | XP_011542348.1:n.-457-11838T>G | |
| XM_011544047.2:c.-393-11838T>G | XP_011542349.1:n.-393-11838T>G | |
| XM_017000152.2:c.-4108T>G | XP_016855641.1:n.-4108T>G | |
| XM_017000153.1:c.-524-11838T>G | XP_016855642.1:n.-524-11838T>G | |
| XM_017000155.1:c.-561-11838T>G | XP_016855644.1:n.-561-11838T>G | |
| XM_017000156.1:c.-525-64770T>G | XP_016855645.1:n.-525-64770T>G | |
| XM_017000158.1:c.-358-64770T>G | XP_016855647.1:n.-358-64770T>G | |
| XM_017000159.1:c.-330-11838T>G | XP_016855648.1:n.-330-11838T>G | |
| XM_017000161.1:c.-462-64770T>G | XP_016855650.1:n.-462-64770T>G | |
| XM_017000162.1:c.-294-64770T>G | XP_016855651.1:n.-294-64770T>G | |
| NM_001347716.2:c.-749-11838T>G | NP_001334645.1:n.-749-11838T>G | |
| NM_001375978.1:c.-520-11838T>G MANE Select | NP_001362907.1:n.-520-11838T>G | |
| NM_001375979.1:c.-457-11838T>G | NP_001362908.1:n.-457-11838T>G | |
| NM_001375980.1:c.-358-64770T>G | NP_001362909.1:n.-358-64770T>G | |
| NM_001375981.1:c.-421-64770T>G | NP_001362910.1:n.-421-64770T>G | |
| NM_001375982.1:c.-524-11838T>G | NP_001362911.1:n.-524-11838T>G | |
| NM_001375983.1:c.-561-11838T>G | NP_001362912.1:n.-561-11838T>G | |
| NM_001375984.1:c.-525-64770T>G | NP_001362913.1:n.-525-64770T>G | |
| NM_001375985.1:c.-462-64770T>G | NP_001362914.1:n.-462-64770T>G | |
| NR_164748.1:n.661-11838T>G |