gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89888073 (EAS)
Genomes Max Group AF
0.89888073 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.85469430A>G , CM000665.2:g.85469430A>G | GRCh38 |
| NC_000003.11:g.85518580A>G , CM000665.1:g.85518580A>G | GRCh37 |
| NC_000003.10:g.85601270A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383699.8:c.62-257092A>G MANE Select | ENSP00000373200.3:n.62-257092A>G | |
| ENST00000383699.7:c.62-257092A>G | ENSP00000373200.3:n.62-257092A>G | |
| ENST00000407528.6:c.62-332617A>G | ENSP00000384575.2:n.62-332617A>G | |
| NM_001167674.1:c.62-332617A>G | NP_001161146.1:n.62-332617A>G | |
| NM_001167675.1:c.62-257092A>G | NP_001161147.1:n.62-257092A>G | |
| XM_006713081.2:c.62-332617A>G | XP_006713144.1:n.62-332617A>G | |
| XM_006713082.2:c.62-332617A>G | XP_006713145.1:n.62-332617A>G | |
| XM_006713081.4:c.62-332617A>G | XP_006713144.1:n.62-332617A>G | |
| XM_006713082.3:c.62-332617A>G | XP_006713145.1:n.62-332617A>G | |
| XM_017006062.2:c.62-42427A>G | XP_016861551.1:n.62-42427A>G | |
| NM_001167674.2:c.62-332617A>G | NP_001161146.1:n.62-332617A>G | |
| NM_001167675.2:c.62-257092A>G MANE Select | NP_001161147.1:n.62-257092A>G | |
| NM_001375960.1:c.62-257092A>G | NP_001362889.1:n.62-257092A>G | |
| NM_001375961.1:c.-86-257092A>G | NP_001362890.1:n.-86-257092A>G | |
| NM_001375964.1:c.62-257092A>G | NP_001362893.1:n.62-257092A>G | |
| NM_001375967.1:c.62-257092A>G | NP_001362896.1:n.62-257092A>G | |
| NM_001375968.1:c.62-257092A>G | NP_001362897.1:n.62-257092A>G | |
| NM_001381963.1:c.62-332617A>G | NP_001368892.1:n.62-332617A>G | |
| NM_001381964.1:c.62-332617A>G | NP_001368893.1:n.62-332617A>G |