gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008153 (AFR)
Genomes Max Group AF
0.00006282 (AFR)
Exomes Max Group AF
0.0000585 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.770470G>T , CM000669.2:g.770470G>T | GRCh38 |
| NC_000007.13:g.810107G>T , CM000669.1:g.810107G>T | GRCh37 |
| NC_000007.12:g.776633G>T | NCBI36 |
| NG_033137.1:g.48770G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.1784-1G>T MANE Select | ENSP00000297440.6:n.1784-1G>T | |
| ENST00000297440.10:c.1784-1G>T | ENSP00000297440.6:n.1784-1G>T | |
| ENST00000403952.3:c.59-1G>T | ENSP00000384884.3:n.59-1G>T | |
| ENST00000440747.5:c.1188-1G>T | ||
| ENST00000491496.1:n.69-1G>T | ||
| NM_017802.3:c.1784-1G>T | NP_060272.3:n.1784-1G>T | |
| NR_075098.1:n.1742-1G>T | ||
| XM_024446813.1:c.1784-1G>T | XP_024302581.1:n.1784-1G>T | |
| XM_024446814.1:c.1178-1G>T | XP_024302582.1:n.1178-1G>T | |
| NM_017802.4:c.1784-1G>T MANE Select | NP_060272.3:n.1784-1G>T | |
| NR_075098.2:n.1744-1G>T |