gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46296313 (NFE)
Genomes Max Group AF
0.46296313 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42507231T>G , CM000667.2:g.42507231T>G | GRCh38 |
| NC_000005.9:g.42507333T>G , CM000667.1:g.42507333T>G | GRCh37 |
| NC_000005.8:g.42543090T>G | NCBI36 |
| NG_011688.1:g.88308T>G | |
| NG_011688.2:g.88308T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230882.9:c.-11-58633T>G MANE Select | ENSP00000230882.4:n.-11-58633T>G | |
| ENST00000230882.8:c.-11-58633T>G | ENSP00000230882.4:n.-11-58633T>G | |
| ENST00000513671.5:c.-11-58633T>G | ENSP00000426739.1:n.-11-58633T>G | |
| ENST00000615111.4:c.-296-6849T>G | ENSP00000478291.1:n.-296-6849T>G | |
| ENST00000620156.4:c.11-58633T>G | ENSP00000483403.1:n.11-58633T>G | |
| NM_000163.4:c.-11-58633T>G | NP_000154.1:n.-11-58633T>G | |
| NM_001242399.2:c.11-58633T>G | NP_001229328.1:n.11-58633T>G | |
| NM_001242400.2:c.-296-6849T>G | NP_001229329.1:n.-296-6849T>G | |
| NM_001242401.3:c.-12+23902T>G | NP_001229330.1:n.-12+23902T>G | |
| XM_011514031.1:c.11-58633T>G | XP_011512333.1:n.11-58633T>G | |
| NM_000163.5:c.-11-58633T>G MANE Select | NP_000154.1:n.-11-58633T>G | |
| NM_001242401.4:c.-12+23902T>G | NP_001229330.1:n.-12+23902T>G |