gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66451416 (AMR)
Genomes Max Group AF
0.66451416 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20184820A>G , CM000668.2:g.20184820A>G | GRCh38 |
| NC_000006.11:g.20185051A>G , CM000668.1:g.20185051A>G | GRCh37 |
| NC_000006.10:g.20293030A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324607.8:c.99+27316T>C MANE Select | ENSP00000324944.7:n.99+27316T>C | |
| ENST00000324607.7:c.99+27316T>C | ENSP00000324944.7:n.99+27316T>C | |
| NM_001080480.2:c.99+27316T>C | NP_001073949.1:n.99+27316T>C | |
| NR_073465.1:n.329+27316T>C | ||
| XM_006714999.1:c.3+22118T>C | XP_006715062.1:n.3+22118T>C | |
| XM_006715000.2:c.99+27316T>C | XP_006715063.1:n.99+27316T>C | |
| XM_011514313.1:c.99+27316T>C | XP_011512615.1:n.99+27316T>C | |
| XR_926070.1:n.267+27316T>C | ||
| XR_926071.1:n.267+27316T>C | ||
| XM_006714999.2:c.3+22118T>C | XP_006715062.1:n.3+22118T>C | |
| XM_006715000.4:c.99+27316T>C | XP_006715063.1:n.99+27316T>C | |
| XM_011514313.3:c.99+27316T>C | XP_011512615.1:n.99+27316T>C | |
| NM_001080480.3:c.99+27316T>C MANE Select | NP_001073949.1:n.99+27316T>C | |
| NR_073465.2:n.334+27316T>C |