gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00054168 (MID)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00023608 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160285095G>C , CM000663.2:g.160285095G>C | GRCh38 |
| NC_000001.10:g.160254885G>C , CM000663.1:g.160254885G>C | GRCh37 |
| NC_000001.9:g.158521509G>C | NCBI36 |
| NG_008637.1:g.5057C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.30C>G MANE Select | ENSP00000357051.5:p.Val10= | |
| ENST00000556710.6:c.30C>G | ENSP00000451235.2:p.Val10= | |
| ENST00000368072.9:c.30C>G | ENSP00000357051.5:p.Val10= | |
| ENST00000472750.5:c.30C>G | ENSP00000434633.1:p.Val10= | |
| ENST00000524939.1:n.47C>G | ||
| ENST00000532508.5:n.2C>G | ||
| ENST00000532643.5:c.30C>G | ENSP00000435915.1:p.Val10= | |
| ENST00000533104.1:n.39C>G | ||
| ENST00000533699.5:n.64+1190C>G | ||
| ENST00000556710.5:c.-216C>G | ENSP00000451235.1:n.-216C>G | |
| NM_001193644.1:c.30C>G | NP_001180573.1:p.Val10= | |
| NM_002857.3:c.30C>G | NP_002848.1:p.Val10= | |
| NR_036492.1:n.57C>G | ||
| NR_036493.1:n.57C>G | ||
| XR_001738265.1:n.88+240G>C | ||
| NM_002857.4:c.30C>G MANE Select | NP_002848.1:p.Val10= | |
| NR_036492.2:n.39C>G | ||
| NR_036493.2:n.39C>G |