gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52767419 (AFR)
Genomes Max Group AF
0.52021904 (AFR)
Exomes Max Group AF
0.5328699 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56349583T>C , CM000674.2:g.56349583T>C | GRCh38 |
| NC_000012.11:g.56743367T>C , CM000674.1:g.56743367T>C | GRCh37 |
| NC_000012.10:g.55029634T>C | NCBI36 |
| NG_046314.1:g.15671A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698178.1:n.1955+6A>G | ||
| ENST00000698179.1:n.1414+6A>G | ||
| ENST00000698180.1:c.*931+6A>G | ENSP00000513597.1:n.*931+6A>G | |
| ENST00000698181.1:n.2448+6A>G | ||
| ENST00000698182.1:n.1994A>G | ||
| ENST00000698183.1:n.2454A>G | ||
| ENST00000698184.1:n.2026+6A>G | ||
| ENST00000698185.1:n.2494A>G | ||
| ENST00000698186.1:c.1210-322A>G | ENSP00000513598.1:n.1210-322A>G | |
| ENST00000698187.1:n.1584-74A>G | ||
| ENST00000698188.1:n.1410+6A>G | ||
| ENST00000698189.1:n.2454A>G | ||
| ENST00000698190.1:n.1915+6A>G | ||
| ENST00000698191.1:n.1767+6A>G | ||
| ENST00000698192.1:c.1257+6A>G | ENSP00000513599.1:n.1257+6A>G | |
| ENST00000698193.1:c.1257+6A>G | ENSP00000513600.1:n.1257+6A>G | |
| ENST00000698194.1:n.1988+6A>G | ||
| ENST00000314128.9:c.1257+6A>G MANE Select | ENSP00000315768.4:n.1257+6A>G | |
| ENST00000418572.7:c.1245+6A>G | ENSP00000387354.2:n.1245+6A>G | |
| ENST00000556140.6:n.2005+6A>G | ||
| ENST00000650805.1:c.*879+6A>G | ENSP00000498710.1:n.*879+6A>G | |
| ENST00000651078.1:n.1940+6A>G | ||
| ENST00000651301.1:c.*931+6A>G | ENSP00000498470.1:n.*931+6A>G | |
| ENST00000651805.1:n.1753+6A>G | ||
| ENST00000651915.1:c.1257+6A>G | ENSP00000498876.1:n.1257+6A>G | |
| ENST00000651934.1:n.1786+6A>G | ||
| ENST00000651967.1:n.1479+6A>G | ||
| ENST00000652091.1:n.1775+6A>G | ||
| ENST00000652398.1:c.*930+6A>G | ENSP00000499022.1:n.*930+6A>G | |
| ENST00000652624.1:c.*571+6A>G | ENSP00000499108.1:n.*571+6A>G | |
| ENST00000652741.1:c.*931+6A>G | ENSP00000498704.1:n.*931+6A>G | |
| ENST00000314128.8:c.1257+6A>G | ENSP00000315768.4:n.1257+6A>G | |
| ENST00000418572.6:c.1245+6A>G | ENSP00000387354.2:n.1245+6A>G | |
| ENST00000555519.5:n.579+6A>G | ||
| ENST00000556539.5:n.187+6A>G | ||
| ENST00000557235.5:c.1245+6A>G | ENSP00000450751.1:n.1245+6A>G | |
| NM_005419.3:c.1257+6A>G | NP_005410.1:n.1257+6A>G | |
| NM_198332.1:c.1245+6A>G | NP_938146.1:n.1245+6A>G | |
| XM_005269110.3:c.1257+6A>G | XP_005269167.2:n.1257+6A>G | |
| XM_005269111.3:c.1257+6A>G | XP_005269168.2:n.1257+6A>G | |
| XM_011538697.1:c.1257+6A>G | XP_011536999.1:n.1257+6A>G | |
| XM_011538698.1:c.1245+6A>G | XP_011537000.1:n.1245+6A>G | |
| XM_011538699.1:c.1257+6A>G | XP_011537001.1:n.1257+6A>G | |
| XM_011538700.1:c.525+6A>G | XP_011537002.1:n.525+6A>G | |
| XM_011538701.1:c.288+6A>G | XP_011537003.1:n.288+6A>G | |
| XM_011538702.1:c.1257+6A>G | XP_011537004.1:n.1257+6A>G | |
| XR_245953.3:n.1368+6A>G | ||
| XR_245954.2:n.1329+6A>G | ||
| XM_011538697.2:c.1257+6A>G | XP_011536999.1:n.1257+6A>G | |
| XM_011538698.3:c.1245+6A>G | XP_011537000.1:n.1245+6A>G | |
| XM_011538699.3:c.1257+6A>G | XP_011537001.1:n.1257+6A>G | |
| XM_011538700.2:c.525+6A>G | XP_011537002.1:n.525+6A>G | |
| XM_017019904.2:c.525+6A>G | XP_016875393.1:n.525+6A>G | |
| XR_001748856.1:n.1368+6A>G | ||
| XR_001748857.1:n.1368+6A>G | ||
| XR_001748858.2:n.1326+6A>G | ||
| XR_002957375.1:n.1368+6A>G | ||
| XR_002957376.1:n.1326+6A>G | ||
| NM_005419.4:c.1257+6A>G MANE Select | NP_005410.1:n.1257+6A>G | |
| NM_198332.2:c.1245+6A>G | NP_938146.1:n.1245+6A>G | |
| NM_001385110.1:c.1224+6A>G | NP_001372039.1:n.1224+6A>G | |
| NM_001385111.1:c.1257+6A>G | NP_001372040.1:n.1257+6A>G | |
| NM_001385113.1:c.1257+6A>G | NP_001372042.1:n.1257+6A>G | |
| NM_001385114.1:c.1236+6A>G | NP_001372043.1:n.1236+6A>G | |
| NM_001385115.1:c.1245+6A>G | NP_001372044.1:n.1245+6A>G |