gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48908388 (AFR)
Genomes Max Group AF
0.48833179 (AFR)
Exomes Max Group AF
0.48298909 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103400160C>A , CM000670.2:g.103400160C>A | GRCh38 |
| NC_000008.10:g.104412388C>A , CM000670.1:g.104412388C>A | GRCh37 |
| NC_000008.9:g.104481564C>A | NCBI36 |
| NG_047200.1:g.20176G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707124.1:c.*251G>T | ENSP00000516752.1:n.*251G>T | |
| ENST00000297578.9:c.*251G>T MANE Select | ENSP00000297578.4:n.*251G>T | |
| ENST00000649416.1:c.*251G>T | ENSP00000496817.1:n.*251G>T | |
| ENST00000297578.8:c.*251G>T | ENSP00000297578.4:n.*251G>T | |
| ENST00000521645.5:c.*588G>T | ENSP00000430989.1:n.*588G>T | |
| ENST00000523256.6:c.*580G>T | ENSP00000427737.1:n.*580G>T | |
| ENST00000523866.1:c.*741G>T | ENSP00000430371.1:n.*741G>T | |
| NM_030780.4:c.*251G>T | NP_110407.2:n.*251G>T | |
| NR_102337.1:n.1511G>T | ||
| NR_102338.1:n.1706G>T | ||
| NM_030780.5:c.*251G>T MANE Select | NP_110407.2:n.*251G>T | |
| NR_102337.2:n.1283G>T | ||
| NR_102338.2:n.1478G>T |