gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131159425G>C , CM000667.2:g.131159425G>C | GRCh38 |
| NC_000005.9:g.130495118G>C , CM000667.1:g.130495118G>C | GRCh37 |
| NC_000005.8:g.130523017G>C | NCBI36 |
| NG_032998.1:g.10924C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304043.10:c.*22C>G MANE Select | ENSP00000304229.5:n.*22C>G | |
| ENST00000506908.2:c.*3126C>G | ENSP00000426860.1:n.*3126C>G | |
| ENST00000508488.2:c.*505C>G | ENSP00000427499.1:n.*505C>G | |
| ENST00000511475.6:c.*436C>G | ENSP00000427008.1:n.*436C>G | |
| ENST00000513012.2:c.*3200C>G | ENSP00000422444.1:n.*3200C>G | |
| ENST00000513345.6:c.*689C>G | ENSP00000421608.1:n.*689C>G | |
| ENST00000520028.2:c.*602C>G | ENSP00000430909.2:n.*602C>G | |
| ENST00000675100.1:c.216+3147C>G | ENSP00000502350.1:n.216+3147C>G | |
| ENST00000675135.1:n.762C>G | ||
| ENST00000675372.1:c.*240C>G | ENSP00000502792.1:n.*240C>G | |
| ENST00000675491.1:c.*2957C>G | ENSP00000502370.1:n.*2957C>G | |
| ENST00000676117.1:n.855C>G | ||
| ENST00000304043.9:c.*22C>G | ENSP00000304229.5:n.*22C>G | |
| ENST00000508495.5:c.*355C>G | ENSP00000424974.1:n.*355C>G | |
| ENST00000511475.5:c.*436C>G | ENSP00000427008.1:n.*436C>G | |
| ENST00000513345.5:c.*240C>G | ENSP00000421608.1:n.*240C>G | |
| NM_005340.6:c.*22C>G | NP_005331.1:n.*22C>G | |
| NR_024610.2:n.735C>G | ||
| NR_024611.2:n.581C>G | ||
| NR_073488.1:n.926C>G | ||
| NR_134494.1:n.891C>G | ||
| NR_134495.1:n.995C>G | ||
| NM_005340.7:c.*22C>G MANE Select | NP_005331.1:n.*22C>G | |
| NR_024610.3:n.643C>G | ||
| NR_024611.3:n.489C>G | ||
| NR_073488.2:n.834C>G | ||
| NR_134494.2:n.799C>G | ||
| NR_134495.2:n.903C>G |