gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63788994 (NFE)
Genomes Max Group AF
0.63788994 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78592061A>G , CM000666.2:g.78592061A>G | GRCh38 |
| NC_000004.11:g.79513215A>G , CM000666.1:g.79513215A>G | GRCh37 |
| NC_000004.10:g.79732239A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264908.11:c.483+438A>G MANE Select | ENSP00000264908.6:n.483+438A>G | |
| ENST00000264908.10:c.483+438A>G | ENSP00000264908.6:n.483+438A>G | |
| ENST00000503570.6:c.366+438A>G | ENSP00000421015.2:n.366+438A>G | |
| ENST00000512542.5:c.16-3320A>G | ENSP00000426591.1:n.16-3320A>G | |
| ENST00000512884.5:c.366+438A>G | ENSP00000423068.1:n.366+438A>G | |
| NM_005139.2:c.483+438A>G | NP_005130.1:n.483+438A>G | |
| XM_011531906.1:c.540+438A>G | XP_011530208.1:n.540+438A>G | |
| XR_938727.1:n.642+438A>G | ||
| XR_001741215.2:n.620+438A>G | ||
| NM_005139.3:c.483+438A>G MANE Select | NP_005130.1:n.483+438A>G |