gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00063282 (NFE)
Genomes Max Group AF
0.00032941 (NFE)
Exomes Max Group AF
0.00064456 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101130605G>C , CM000669.2:g.101130605G>C | GRCh38 |
| NC_000007.13:g.100773886G>C , CM000669.1:g.100773886G>C | GRCh37 |
| NC_000007.12:g.100560606G>C | NCBI36 |
| NG_013213.1:g.8508G>C , LRG_597:g.8508G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.456G>C MANE Select | ENSP00000223095.4:p.Val152= | |
| ENST00000223095.4:c.456G>C | ENSP00000223095.4:p.Val152= | |
| NM_000602.4:c.456G>C , LRG_597t1:c.456G>C | NP_000593.1:p.Val152= | |
| NM_000602.5:c.456G>C MANE Select | NP_000593.1:p.Val152= | |
| NM_001386456.1:c.204G>C | NP_001373385.1:p.Val68= | |
| NM_001386457.1:c.456G>C | NP_001373386.1:p.Val152= | |
| NM_001386458.1:c.456G>C | NP_001373387.1:p.Val152= | |
| NM_001386459.1:c.456G>C | NP_001373388.1:p.Val152= | |
| NM_001386460.1:c.456G>C | NP_001373389.1:p.Val152= | |
| NM_001386461.1:c.456G>C | NP_001373390.1:p.Val152= | |
| NM_001386462.1:c.255G>C | NP_001373391.1:p.Val85= | |
| NM_001386463.1:c.450G>C | NP_001373392.1:p.Val150= | |
| NM_001386464.1:c.456G>C | NP_001373393.1:p.Val152= | |
| NM_001386465.1:c.456G>C | NP_001373394.1:p.Val152= | |
| NM_001386466.1:c.480G>C | NP_001373395.1:p.Val160= |