dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4863813 (AFR)
Genomes Max Group AF
0.4863813 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73740952T>G , CM000666.2:g.73740952T>G | GRCh38 |
| NC_000004.11:g.74606669T>G , CM000666.1:g.74606669T>G | GRCh37 |
| NC_000004.10:g.74825533T>G | NCBI36 |
| NG_029889.1:g.5447T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696131.1:c.*171T>G | ENSP00000512424.1:n.*171T>G | |
| ENST00000696132.1:c.*22+149T>G | ENSP00000512425.1:n.*22+149T>G | |
| ENST00000307407.8:c.64+230T>G MANE Select | ENSP00000306512.3:n.64+230T>G | |
| ENST00000307407.7:c.64+230T>G | ENSP00000306512.3:n.64+230T>G | |
| ENST00000401931.1:c.64+230T>G | ENSP00000385908.1:n.64+230T>G | |
| ENST00000483500.1:n.154+230T>G | ||
| NM_000584.3:c.64+230T>G | NP_000575.1:n.64+230T>G | |
| NM_001354840.1:c.64+230T>G | NP_001341769.1:n.64+230T>G | |
| NM_000584.4:c.64+230T>G MANE Select | NP_000575.1:n.64+230T>G | |
| NM_001354840.2:c.64+230T>G | NP_001341769.1:n.64+230T>G | |
| NM_001354840.3:c.64+230T>G | NP_001341769.1:n.64+230T>G |