gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94700348 (EAS)
Genomes Max Group AF
0.93198323 (EAS)
Exomes Max Group AF
0.94655462 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7116952T>C , CM000681.2:g.7116952T>C | GRCh38 |
| NC_000019.9:g.7116963T>C , CM000681.1:g.7116963T>C | GRCh37 |
| NC_000019.8:g.7067963T>C | NCBI36 |
| NG_008852.2:g.182049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.*104A>G MANE Select | ENSP00000303830.4:n.*104A>G | |
| ENST00000302850.9:c.*104A>G | ENSP00000303830.4:n.*104A>G | |
| ENST00000341500.9:c.*104A>G | ENSP00000342838.4:n.*104A>G | |
| NM_000208.2:c.*104A>G | NP_000199.2:n.*104A>G | |
| NM_000208.3:c.*104A>G | NP_000199.2:n.*104A>G | |
| NM_001079817.1:c.*104A>G | NP_001073285.1:n.*104A>G | |
| NM_001079817.2:c.*104A>G | NP_001073285.1:n.*104A>G | |
| XM_011527988.1:c.*104A>G | XP_011526290.1:n.*104A>G | |
| XM_011527989.1:c.*104A>G | XP_011526291.1:n.*104A>G | |
| XM_011527988.2:c.*104A>G | XP_011526290.2:n.*104A>G | |
| XM_011527989.3:c.*104A>G | XP_011526291.2:n.*104A>G | |
| NM_000208.4:c.*104A>G MANE Select | NP_000199.2:n.*104A>G | |
| NM_001079817.3:c.*104A>G | NP_001073285.1:n.*104A>G |