gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21331143 (SAS)
Genomes Max Group AF
0.21331143 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126231037C>T , CM000673.2:g.126231037C>T | GRCh38 |
| NC_000011.9:g.126100932C>T , CM000673.1:g.126100932C>T | GRCh37 |
| NC_000011.8:g.125606142C>T | NCBI36 |
| NG_017156.1:g.24314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533050.6:c.-8+1744C>T MANE Select | ENSP00000433343.1:n.-8+1744C>T | |
| ENST00000360194.8:c.-7-3958C>T | ENSP00000353321.4:n.-7-3958C>T | |
| ENST00000525338.1:c.-8+1744C>T | ENSP00000435754.1:n.-8+1744C>T | |
| ENST00000525728.5:n.134+1744C>T | ||
| ENST00000527247.5:n.70+1744C>T | ||
| ENST00000528985.5:c.-144+1744C>T | ENSP00000434952.1:n.-144+1744C>T | |
| ENST00000529731.5:c.-7-3958C>T | ENSP00000432712.1:n.-7-3958C>T | |
| ENST00000530043.5:c.-8+1701C>T | ENSP00000437285.1:n.-8+1701C>T | |
| ENST00000533050.5:c.-8+1744C>T | ENSP00000433343.1:n.-8+1744C>T | |
| ENST00000627851.2:c.-8+1744C>T | ENSP00000487554.1:n.-8+1744C>T | |
| NM_024556.3:c.-8+1744C>T | NP_078832.1:n.-8+1744C>T | |
| XM_005271665.2:c.-8+1744C>T | XP_005271722.1:n.-8+1744C>T | |
| XM_011542977.1:c.-7-3958C>T | XP_011541279.1:n.-7-3958C>T | |
| XM_011542978.1:c.-519+1744C>T | XP_011541280.1:n.-519+1744C>T | |
| XM_011542979.1:c.-518-3958C>T | XP_011541281.1:n.-518-3958C>T | |
| NM_001330446.1:c.-8+1744C>T | NP_001317375.1:n.-8+1744C>T | |
| XM_011542977.3:c.-7-3958C>T | XP_011541279.1:n.-7-3958C>T | |
| XM_011542978.3:c.-519+1744C>T | XP_011541280.1:n.-519+1744C>T | |
| XM_017018285.2:c.-7-3958C>T | XP_016873774.1:n.-7-3958C>T | |
| XM_017018286.1:c.-519+1744C>T | XP_016873775.1:n.-519+1744C>T | |
| NM_024556.4:c.-8+1744C>T MANE Select | NP_078832.1:n.-8+1744C>T |