gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8207609 (AFR)
Genomes Max Group AF
0.8207609 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115636338A>C , CM000670.2:g.115636338A>C | GRCh38 |
| NC_000008.10:g.116648565A>C , CM000670.1:g.116648565A>C | GRCh37 |
| NC_000008.9:g.116717740A>C | NCBI36 |
| NG_012383.3:g.37664T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.-121-12580T>G MANE Select | ENSP00000379065.3:n.-121-12580T>G | |
| ENST00000640765.1:c.-2-16278T>G | ENSP00000492037.1:n.-2-16278T>G | |
| ENST00000220888.9:c.-2-16278T>G | ENSP00000220888.5:n.-2-16278T>G | |
| ENST00000395713.6:c.-121-12580T>G | ENSP00000379063.2:n.-121-12580T>G | |
| ENST00000395715.7:c.-121-12580T>G | ENSP00000379065.3:n.-121-12580T>G | |
| ENST00000422939.1:c.-122+896T>G | ENSP00000405028.1:n.-122+896T>G | |
| ENST00000451156.1:c.-121-12580T>G | ENSP00000400360.1:n.-121-12580T>G | |
| ENST00000517323.2:c.11-16278T>G | ENSP00000430803.2:n.11-16278T>G | |
| ENST00000519674.1:c.-2-16278T>G | ENSP00000429174.1:n.-2-16278T>G | |
| ENST00000519815.5:c.-121-12580T>G | ENSP00000430383.1:n.-121-12580T>G | |
| ENST00000520276.5:c.11-16278T>G | ENSP00000428680.1:n.11-16278T>G | |
| NM_001282902.2:c.11-16278T>G | NP_001269831.1:n.11-16278T>G | |
| NM_001282903.2:c.-128-12580T>G | NP_001269832.1:n.-128-12580T>G | |
| NM_014112.4:c.-121-12580T>G | NP_054831.2:n.-121-12580T>G | |
| XM_005251049.2:c.-2-16278T>G | XP_005251106.1:n.-2-16278T>G | |
| XM_006716625.1:c.-121-12580T>G | XP_006716688.1:n.-121-12580T>G | |
| XM_011517264.1:c.-122+896T>G | XP_011515566.1:n.-122+896T>G | |
| XM_011517265.1:c.-121-12580T>G | XP_011515567.1:n.-121-12580T>G | |
| XM_011517266.1:c.-121-12580T>G | XP_011515568.1:n.-121-12580T>G | |
| XM_011517267.1:c.-128-12580T>G | XP_011515569.1:n.-128-12580T>G | |
| XM_011517268.1:c.-3+896T>G | XP_011515570.1:n.-3+896T>G | |
| NM_001330599.1:c.-2-16278T>G | NP_001317528.1:n.-2-16278T>G | |
| XM_011517264.2:c.-122+896T>G | XP_011515566.1:n.-122+896T>G | |
| XM_011517266.3:c.-121-12580T>G | XP_011515568.1:n.-121-12580T>G | |
| XM_011517268.2:c.-3+896T>G | XP_011515570.1:n.-3+896T>G | |
| NM_001282902.3:c.11-16278T>G | NP_001269831.1:n.11-16278T>G | |
| NM_001282903.3:c.-128-12580T>G | NP_001269832.1:n.-128-12580T>G | |
| NM_001330599.2:c.-2-16278T>G | NP_001317528.1:n.-2-16278T>G | |
| NM_014112.5:c.-121-12580T>G MANE Select | NP_054831.2:n.-121-12580T>G |