gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020366 (NFE)
Genomes Max Group AF
0.00020667 (NFE)
Exomes Max Group AF
0.00019816 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160285104G>C , CM000663.2:g.160285104G>C | GRCh38 |
| NC_000001.10:g.160254894G>C , CM000663.1:g.160254894G>C | GRCh37 |
| NC_000001.9:g.158521518G>C | NCBI36 |
| NG_008637.1:g.5048C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.21C>G MANE Select | ENSP00000357051.5:p.Gly7= | |
| ENST00000556710.6:c.21C>G | ENSP00000451235.2:p.Gly7= | |
| ENST00000368072.9:c.21C>G | ENSP00000357051.5:p.Gly7= | |
| ENST00000472750.5:c.21C>G | ENSP00000434633.1:p.Gly7= | |
| ENST00000524939.1:n.38C>G | ||
| ENST00000532643.5:c.21C>G | ENSP00000435915.1:p.Gly7= | |
| ENST00000533104.1:n.30C>G | ||
| ENST00000533699.5:n.64+1181C>G | ||
| ENST00000556710.5:c.-225C>G | ENSP00000451235.1:n.-225C>G | |
| NM_001193644.1:c.21C>G | NP_001180573.1:p.Gly7= | |
| NM_002857.3:c.21C>G | NP_002848.1:p.Gly7= | |
| NR_036492.1:n.48C>G | ||
| NR_036493.1:n.48C>G | ||
| XR_001738265.1:n.88+249G>C | ||
| NM_002857.4:c.21C>G MANE Select | NP_002848.1:p.Gly7= | |
| NR_036492.2:n.30C>G | ||
| NR_036493.2:n.30C>G |