gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3454063 (NFE)
Genomes Max Group AF
0.3452665 (NFE)
Exomes Max Group AF
0.32253929 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81309441T>C , CM000677.2:g.81309441T>C | GRCh38 |
| NC_000015.9:g.81601782T>C , CM000677.1:g.81601782T>C | GRCh37 |
| NC_000015.8:g.79388837T>C | NCBI36 |
| NG_029933.1:g.117564T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302987.10:c.*643T>C (IL16) | ENSP00000302935.5:n.*643T>C | |
| ENST00000706926.1:c.*643T>C (IL16) | ENSP00000516648.1:n.*643T>C | |
| ENST00000302987.9:c.*643T>C (IL16) | ENSP00000302935.5:n.*643T>C | |
| ENST00000683961.1:c.*643T>C (IL16) MANE Select | ENSP00000508085.1:n.*643T>C | |
| ENST00000302824.7:c.*3815A>G (STARD5) MANE Select | ENSP00000304032.6:n.*3815A>G | |
| ENST00000302824.6:c.*3815A>G (STARD5) | ENSP00000304032.6:n.*3815A>G | |
| ENST00000394660.6:c.*643T>C (IL16) | ENSP00000378155.2:n.*643T>C | |
| ENST00000560916.1:n.462A>G (STARD5) | ||
| NM_001172128.1:c.*643T>C (IL16) | NP_001165599.1:n.*643T>C | |
| NM_004513.5:c.*643T>C (IL16) | NP_004504.3:n.*643T>C | |
| NM_172217.3:c.*643T>C (IL16) | NP_757366.2:n.*643T>C | |
| NM_001352684.1:c.*643T>C (IL16) | NP_001339613.1:n.*643T>C | |
| NM_001352685.1:c.*643T>C (IL16) | NP_001339614.1:n.*643T>C | |
| NM_001352686.1:c.*643T>C (IL16) | NP_001339615.1:n.*643T>C | |
| NM_172217.4:c.*643T>C (IL16) | NP_757366.2:n.*643T>C | |
| NR_148035.1:n.4854T>C (IL16) | ||
| NM_181900.3:c.*3815A>G (STARD5) MANE Select | NP_871629.1:n.*3815A>G | |
| NM_001172128.2:c.*643T>C (IL16) | NP_001165599.1:n.*643T>C | |
| NM_001352684.2:c.*643T>C (IL16) | NP_001339613.1:n.*643T>C | |
| NM_001352685.2:c.*643T>C (IL16) | NP_001339614.1:n.*643T>C | |
| NM_004513.6:c.*643T>C (IL16) | NP_004504.3:n.*643T>C | |
| NM_172217.5:c.*643T>C (IL16) MANE Select | NP_757366.2:n.*643T>C | |
| NR_135013.2:n.4449A>G (STARD5) | ||
| NR_148035.2:n.4853T>C (IL16) | ||
| NM_001352686.2:c.*643T>C (IL16) | NP_001339615.1:n.*643T>C |