gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013835 (NFE)
Genomes Max Group AF
0.00007909 (NFE)
Exomes Max Group AF
0.00013885 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35456050A>C , CM000668.2:g.35456050A>C | GRCh38 |
| NC_000006.11:g.35423827A>C , CM000668.1:g.35423827A>C | GRCh37 |
| NC_000006.10:g.35531805A>C | NCBI36 |
| NG_011708.1:g.8690A>C , LRG_498:g.8690A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.552A>C | ENSP00000512511.1:p.Pro184= | |
| ENST00000696265.1:c.552A>C | ENSP00000512512.1:p.Pro184= | |
| ENST00000696266.1:c.270A>C | ENSP00000512513.1:p.Pro90= | |
| ENST00000696267.1:n.192A>C | ||
| ENST00000229769.3:c.552A>C MANE Select | ENSP00000229769.2:p.Pro184= | |
| ENST00000648059.1:c.552A>C | ENSP00000497902.1:p.Pro184= | |
| ENST00000229769.2:c.552A>C | ENSP00000229769.2:p.Pro184= | |
| NM_021922.2:c.552A>C , LRG_498t1:c.552A>C | NP_068741.1:p.Pro184= | |
| XM_005248885.2:c.552A>C | XP_005248942.1:p.Pro184= | |
| XM_005248886.2:c.552A>C | XP_005248943.1:p.Pro184= | |
| XM_005248887.2:c.552A>C | XP_005248944.1:p.Pro184= | |
| XM_005248888.2:c.552A>C | XP_005248945.1:p.Pro184= | |
| XM_011514343.1:c.258A>C | XP_011512645.1:p.Pro86= | |
| XM_011514344.1:c.258A>C | XP_011512646.1:p.Pro86= | |
| XM_005248888.3:c.552A>C | XP_005248945.1:p.Pro184= | |
| XM_011514343.2:c.258A>C | XP_011512645.1:p.Pro86= | |
| XR_001743226.1:n.759A>C | ||
| XR_002956267.1:n.759A>C | ||
| NM_021922.3:c.552A>C MANE Select | NP_068741.1:p.Pro184= |