gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10893144 (SAS)
Genomes Max Group AF
0.1157445 (SAS)
Exomes Max Group AF
0.11129924 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11106656T>C , CM000663.2:g.11106656T>C | GRCh38 |
| NC_000001.10:g.11166713T>C , CM000663.1:g.11166713T>C | GRCh37 |
| NC_000001.9:g.11089300T>C | NCBI36 |
| NG_033239.1:g.160896A>G , LRG_734:g.160896A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*3854A>G | ENSP00000515181.1:n.*3854A>G | |
| ENST00000703139.1:c.3267A>G | ||
| ENST00000703140.1:c.*829A>G | ENSP00000515197.1:n.*829A>G | |
| ENST00000703141.1:c.*3996A>G | ENSP00000515198.1:n.*3996A>G | |
| ENST00000703142.1:c.*5309A>G | ENSP00000515199.1:n.*5309A>G | |
| ENST00000361445.9:c.*829A>G MANE Select | ENSP00000354558.4:n.*829A>G | |
| ENST00000361445.8:c.*829A>G | ENSP00000354558.4:n.*829A>G | |
| ENST00000376838.5:c.*829A>G | ENSP00000366034.1:n.*829A>G | |
| NM_004958.3:c.*829A>G , LRG_734t1:c.*829A>G | NP_004949.1:n.*829A>G | |
| XM_005263438.1:c.*829A>G | XP_005263495.1:n.*829A>G | |
| XM_005263438.2:c.*829A>G | XP_005263495.1:n.*829A>G | |
| XM_017000900.1:c.*829A>G | XP_016856389.1:n.*829A>G | |
| XM_017000901.1:c.*829A>G | XP_016856390.1:n.*829A>G | |
| XM_024446187.1:c.*829A>G | XP_024301955.1:n.*829A>G | |
| XR_001737087.1:n.8517A>G | ||
| NM_004958.4:c.*829A>G MANE Select | NP_004949.1:n.*829A>G | |
| NM_001386500.1:c.*829A>G | NP_001373429.1:n.*829A>G | |
| NM_001386501.1:c.*829A>G | NP_001373430.1:n.*829A>G |