gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58037733 (EAS)
Genomes Max Group AF
0.61186175 (EAS)
Exomes Max Group AF
0.56071162 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104771343G>C , CM000676.2:g.104771343G>C | GRCh38 |
| NC_000014.8:g.105237680G>C , CM000676.1:g.105237680G>C | GRCh37 |
| NC_000014.7:g.104308725G>C | NCBI36 |
| NG_012188.1:g.29402C>G , LRG_721:g.29402C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.1162-496C>G | ENSP00000450681.3:n.1162-496C>G | |
| ENST00000554585.6:c.*86+379C>G | ENSP00000481526.2:n.*86+379C>G | |
| ENST00000555458.6:c.1261-496C>G | ENSP00000451470.3:n.1261-496C>G | |
| ENST00000553797.2:c.1336-496C>G | ENSP00000507566.1:n.1336-496C>G | |
| ENST00000554826.2:n.1730-496C>G | ||
| ENST00000610370.2:n.2751C>G | ||
| ENST00000683058.1:n.1138-496C>G | ||
| ENST00000683722.1:c.1261-496C>G | ENSP00000507879.1:n.1261-496C>G | |
| ENST00000684058.1:n.818-496C>G | ||
| ENST00000407796.7:c.1261-496C>G | ENSP00000384293.2:n.1261-496C>G | |
| ENST00000649815.2:c.1261-496C>G MANE Select | ENSP00000497822.1:n.1261-496C>G | |
| ENST00000349310.7:c.1261-496C>G | ENSP00000270202.4:n.1261-496C>G | |
| ENST00000402615.6:c.1261-496C>G | ENSP00000385326.2:n.1261-496C>G | |
| ENST00000407796.6:c.1261-496C>G | ENSP00000384293.2:n.1261-496C>G | |
| ENST00000544168.5:n.1196-496C>G | ||
| ENST00000553506.5:n.1659-496C>G | ||
| ENST00000554192.5:c.371-496C>G | ||
| ENST00000554581.5:c.1261-496C>G | ENSP00000451828.1:n.1261-496C>G | |
| ENST00000554585.5:c.527+379C>G | ENSP00000481526.1:n.527+379C>G | |
| ENST00000554848.5:c.1261-496C>G | ENSP00000451166.1:n.1261-496C>G | |
| ENST00000555458.5:c.368-496C>G | ||
| ENST00000555528.5:c.1261-496C>G | ENSP00000450688.1:n.1261-496C>G | |
| ENST00000557552.1:n.6729C>G | ||
| ENST00000610370.1:n.1196C>G | ||
| NM_001014431.1:c.1261-496C>G | NP_001014431.1:n.1261-496C>G | |
| NM_001014432.1:c.1261-496C>G , LRG_721t1:c.1261-496C>G | NP_001014432.1:n.1261-496C>G | |
| NM_005163.2:c.1261-496C>G , LRG_721t2:c.1261-496C>G | NP_005154.2:n.1261-496C>G | |
| XM_005267401.1:c.1261-496C>G | XP_005267458.1:n.1261-496C>G | |
| XM_011536543.1:c.1261-496C>G | XP_011534845.1:n.1261-496C>G | |
| XM_011536544.1:c.*465C>G | XP_011534846.1:n.*465C>G | |
| XR_002957536.1:n.2482C>G | ||
| NM_001014431.2:c.1261-496C>G | NP_001014431.1:n.1261-496C>G | |
| NM_001014432.2:c.1261-496C>G | NP_001014432.1:n.1261-496C>G | |
| NM_001382430.1:c.1261-496C>G MANE Select | NP_001369359.1:n.1261-496C>G | |
| NM_001382431.1:c.1261-496C>G | NP_001369360.1:n.1261-496C>G | |
| NM_001382432.1:c.1261-496C>G | NP_001369361.1:n.1261-496C>G | |
| NM_001382433.1:c.1261-496C>G | NP_001369362.1:n.1261-496C>G |