gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36537718 (AFR)
Genomes Max Group AF
0.36537718 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171833670T>C , CM000664.2:g.171833670T>C | GRCh38 |
| NC_000002.11:g.172690180T>C , CM000664.1:g.172690180T>C | GRCh37 |
| NC_000002.10:g.172398426T>C | NCBI36 |
| NG_011781.1:g.65634A>G | |
| NG_011781.2:g.65634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.845+293A>G MANE Select | ENSP00000388658.2:n.845+293A>G | |
| ENST00000263812.8:c.*465+293A>G | ENSP00000263812.4:n.*465+293A>G | |
| ENST00000422440.6:c.845+293A>G | ENSP00000388658.2:n.845+293A>G | |
| ENST00000485880.1:n.373+293A>G | ||
| NM_003705.4:c.845+293A>G | NP_003696.2:n.845+293A>G | |
| NR_047549.1:n.821+293A>G | ||
| XM_005246923.3:c.794+293A>G | XP_005246980.1:n.794+293A>G | |
| XM_011512069.1:c.845+293A>G | XP_011510371.1:n.845+293A>G | |
| XM_011512070.1:c.572+293A>G | XP_011510372.1:n.572+293A>G | |
| XM_011512070.3:c.572+293A>G | XP_011510372.1:n.572+293A>G | |
| NM_003705.5:c.845+293A>G MANE Select | NP_003696.2:n.845+293A>G | |
| NR_047549.2:n.759+293A>G |