gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53634076 (AMR)
Genomes Max Group AF
0.53634076 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.28037661A>C , CM000680.2:g.28037661A>C | GRCh38 |
| NC_000018.9:g.25617625A>C , CM000680.1:g.25617625A>C | GRCh37 |
| NC_000018.8:g.23871623A>C | NCBI36 |
| NG_011959.1:g.144821T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269141.8:c.173-23752T>G MANE Select | ENSP00000269141.3:n.173-23752T>G | |
| ENST00000413878.2:c.-83-23752T>G | ENSP00000414269.2:n.-83-23752T>G | |
| ENST00000430882.6:c.-83-23752T>G | ENSP00000412120.2:n.-83-23752T>G | |
| ENST00000675708.1:c.-83-23752T>G | ENSP00000501654.1:n.-83-23752T>G | |
| ENST00000676445.1:c.-83-23752T>G | ENSP00000502206.1:n.-83-23752T>G | |
| ENST00000269141.7:c.173-23752T>G | ENSP00000269141.3:n.173-23752T>G | |
| ENST00000413878.1:c.-83-23752T>G | ENSP00000414269.1:n.-83-23752T>G | |
| ENST00000418492.5:c.19+7750T>G | ENSP00000411360.1:n.19+7750T>G | |
| ENST00000430882.5:c.-83-23752T>G | ENSP00000412120.1:n.-83-23752T>G | |
| NM_001792.3:c.173-23752T>G | NP_001783.2:n.173-23752T>G | |
| NM_001792.4:c.173-23752T>G | NP_001783.2:n.173-23752T>G | |
| XM_005258181.2:c.119-23752T>G | XP_005258238.1:n.119-23752T>G | |
| XM_011525787.1:c.119-23752T>G | XP_011524089.1:n.119-23752T>G | |
| XM_011525788.1:c.-83-23752T>G | XP_011524090.1:n.-83-23752T>G | |
| XM_017025514.2:c.173-23752T>G | XP_016881003.1:n.173-23752T>G | |
| NM_001792.5:c.173-23752T>G MANE Select | NP_001783.2:n.173-23752T>G |