gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003252 (AFR)
Genomes Max Group AF
0.00003252 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121568956T>G , CM000673.2:g.121568956T>G | GRCh38 |
| NC_000011.9:g.121439665T>G , CM000673.1:g.121439665T>G | GRCh37 |
| NC_000011.8:g.120944875T>G | NCBI36 |
| NG_023313.1:g.121705T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.3224-1201T>G MANE Select | ENSP00000260197.6:n.3224-1201T>G | |
| ENST00000260197.11:c.3224-1201T>G | ENSP00000260197.6:n.3224-1201T>G | |
| ENST00000525532.5:c.56-1201T>G | ENSP00000434634.1:n.56-1201T>G | |
| NM_003105.5:c.3224-1201T>G | NP_003096.1:n.3224-1201T>G | |
| XM_011542963.1:c.3223+1843T>G | XP_011541265.1:n.3223+1843T>G | |
| XM_011542964.1:c.3224-1201T>G | XP_011541266.1:n.3224-1201T>G | |
| XM_011542965.1:c.1685-1201T>G | XP_011541267.1:n.1685-1201T>G | |
| XM_011542966.1:c.584-1201T>G | XP_011541268.1:n.584-1201T>G | |
| XM_011542967.1:c.56-1201T>G | XP_011541269.1:n.56-1201T>G | |
| XM_011542963.3:c.3223+1843T>G | XP_011541265.1:n.3223+1843T>G | |
| XM_011542965.3:c.1685-1201T>G | XP_011541267.1:n.1685-1201T>G | |
| XM_011542967.3:c.56-1201T>G | XP_011541269.1:n.56-1201T>G | |
| XM_017018169.2:c.2912-1201T>G | XP_016873658.1:n.2912-1201T>G | |
| XM_017018170.2:c.2699-1201T>G | XP_016873659.1:n.2699-1201T>G | |
| XM_017018171.1:c.3224-1201T>G | XP_016873660.1:n.3224-1201T>G | |
| XM_017018172.2:c.584-1201T>G | XP_016873661.1:n.584-1201T>G | |
| NM_003105.6:c.3224-1201T>G MANE Select | NP_003096.2:n.3224-1201T>G |