gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02649794 (AMR)
Genomes Max Group AF
0.02649794 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30185184T>C , CM000668.2:g.30185184T>C | GRCh38 |
| NC_000006.11:g.30152961T>C , CM000668.1:g.30152961T>C | GRCh37 |
| NC_000006.10:g.30260940T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454678.7:c.*692A>G MANE Select | ENSP00000410446.2:n.*692A>G | |
| ENST00000437089.5:c.*692A>G | ENSP00000395491.1:n.*692A>G | |
| ENST00000453195.5:c.*692A>G | ENSP00000391879.1:n.*692A>G | |
| ENST00000454678.6:c.*692A>G | ENSP00000410446.2:n.*692A>G | |
| ENST00000480999.1:n.2385A>G | ||
| NM_001242783.1:c.*692A>G | NP_001229712.1:n.*692A>G | |
| NM_003449.4:c.*692A>G | NP_003440.1:n.*692A>G | |
| XM_005249374.2:c.*692A>G | XP_005249431.1:n.*692A>G | |
| XM_005249375.2:c.*692A>G | XP_005249432.1:n.*692A>G | |
| XM_005249376.2:c.*692A>G | XP_005249433.1:n.*692A>G | |
| XM_005249377.2:c.*692A>G | XP_005249434.1:n.*692A>G | |
| XM_005249378.2:c.*692A>G | XP_005249435.1:n.*692A>G | |
| XM_006715180.2:c.*692A>G | XP_006715243.1:n.*692A>G | |
| XM_011514859.1:c.*692A>G | XP_011513161.1:n.*692A>G | |
| XM_017011263.1:c.*692A>G | XP_016866752.1:n.*692A>G | |
| NM_003449.5:c.*692A>G MANE Select | NP_003440.1:n.*692A>G | |
| NM_001242783.2:c.*692A>G | NP_001229712.1:n.*692A>G |