gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69976168 (SAS)
Genomes Max Group AF
0.69976168 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11150801G>C , CM000678.2:g.11150801G>C | GRCh38 |
| NC_000016.9:g.11244658G>C , CM000678.1:g.11244658G>C | GRCh37 |
| NC_000016.8:g.11152159G>C | NCBI36 |
| NG_016757.1:g.211314G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703130.1:c.2636-15587G>C | ENSP00000515187.1:n.2636-15587G>C | |
| ENST00000409790.6:c.2642-15587G>C MANE Select | ENSP00000387122.1:n.2642-15587G>C | |
| ENST00000261657.5:c.216-15587G>C | ||
| ENST00000409790.5:c.2642-15587G>C | ENSP00000387122.1:n.2642-15587G>C | |
| ENST00000428742.6:c.373-6276G>C | ||
| ENST00000436973.5:c.221-5773G>C | ENSP00000389963.1:n.221-5773G>C | |
| NM_015226.2:c.2642-15587G>C | NP_056041.1:n.2642-15587G>C | |
| XM_005255210.1:c.2636-15587G>C | XP_005255267.1:n.2636-15587G>C | |
| XM_005255211.1:c.2594-15587G>C | XP_005255268.1:n.2594-15587G>C | |
| XM_005255213.1:c.2588-15587G>C | XP_005255270.1:n.2588-15587G>C | |
| XM_005255214.1:c.2641+24655G>C | XP_005255271.1:n.2641+24655G>C | |
| XM_005255215.3:c.2642-5773G>C | XP_005255272.1:n.2642-5773G>C | |
| XM_005255216.1:c.2642-6276G>C | XP_005255273.1:n.2642-6276G>C | |
| XM_011522434.1:c.2513-15587G>C | XP_011520736.1:n.2513-15587G>C | |
| XM_011522435.1:c.2642-15587G>C | XP_011520737.1:n.2642-15587G>C | |
| XR_932810.1:n.2866-15587G>C | ||
| XM_005255210.2:c.2636-15587G>C | XP_005255267.1:n.2636-15587G>C | |
| XM_005255211.2:c.2594-15587G>C | XP_005255268.1:n.2594-15587G>C | |
| XM_005255213.2:c.2588-15587G>C | XP_005255270.1:n.2588-15587G>C | |
| XM_005255214.2:c.2641+24655G>C | XP_005255271.1:n.2641+24655G>C | |
| XM_005255215.4:c.2642-5773G>C | XP_005255272.1:n.2642-5773G>C | |
| XM_005255216.2:c.2642-6276G>C | XP_005255273.1:n.2642-6276G>C | |
| XM_011522434.2:c.2513-15587G>C | XP_011520736.1:n.2513-15587G>C | |
| XM_011522435.2:c.2642-15587G>C | XP_011520737.1:n.2642-15587G>C | |
| XM_011522438.3:c.*872G>C | XP_011520740.1:n.*872G>C | |
| XM_017023090.2:c.1127-15587G>C | XP_016878579.1:n.1127-15587G>C | |
| XM_024450218.1:c.2594-5773G>C | XP_024305986.1:n.2594-5773G>C | |
| XM_024450219.1:c.1193-15587G>C | XP_024305987.1:n.1193-15587G>C | |
| XR_932810.3:n.2821-15587G>C | ||
| NM_015226.3:c.2642-15587G>C MANE Select | NP_056041.1:n.2642-15587G>C |