gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33542488 (NFE)
Genomes Max Group AF
0.33539898 (NFE)
Exomes Max Group AF
0.33277145 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94417624T>C , CM000673.2:g.94417624T>C | GRCh38 |
| NC_000011.9:g.94150790T>C , CM000673.1:g.94150790T>C | GRCh37 |
| NC_000011.8:g.93790438T>C | NCBI36 |
| NG_007261.1:g.81251A>G , LRG_85:g.81251A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.*2501A>G MANE Select | ENSP00000325863.4:n.*2501A>G | |
| ENST00000323929.7:c.*2501A>G | ENSP00000325863.3:n.*2501A>G | |
| NM_005590.3:c.*2501A>G | NP_005581.2:n.*2501A>G | |
| NM_005591.3:c.*2501A>G , LRG_85t1:c.*2501A>G | NP_005582.1:n.*2501A>G | |
| XR_947828.1:n.4747+177A>G | ||
| NM_001330347.1:c.*2501A>G | NP_001317276.1:n.*2501A>G | |
| XM_005274008.3:c.*2501A>G | XP_005274065.1:n.*2501A>G | |
| XM_006718842.3:c.*2501A>G | XP_006718905.1:n.*2501A>G | |
| XM_011542837.2:c.*2501A>G | XP_011541139.1:n.*2501A>G | |
| XM_017017772.1:c.*2501A>G | XP_016873261.1:n.*2501A>G | |
| XR_947828.2:n.4747+177A>G | ||
| NM_001330347.2:c.*2501A>G | NP_001317276.1:n.*2501A>G | |
| NM_005590.4:c.*2501A>G | NP_005581.2:n.*2501A>G | |
| NM_005591.4:c.*2501A>G MANE Select | NP_005582.1:n.*2501A>G |