gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26415734 (SAS)
Genomes Max Group AF
0.28444675 (SAS)
Exomes Max Group AF
0.26083726 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29603768A>G , CM000668.2:g.29603768A>G | GRCh38 |
| NC_000006.11:g.29571545A>G , CM000668.1:g.29571545A>G | GRCh37 |
| NC_000006.10:g.29679524A>G | NCBI36 |
| NG_029101.1:g.34418T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377012.9:c.2362-52T>C | ENSP00000366211.4:n.2362-52T>C | |
| ENST00000462632.6:c.2713-52T>C | ENSP00000419755.2:n.2713-52T>C | |
| ENST00000476670.3:c.2728-52T>C | ENSP00000417332.2:n.2728-52T>C | |
| ENST00000706533.1:c.2713-52T>C | ENSP00000516435.1:n.2713-52T>C | |
| ENST00000377034.9:c.2713-52T>C MANE Select | ENSP00000366233.4:n.2713-52T>C | |
| ENST00000355973.7:c.2362-52T>C | ENSP00000348248.3:n.2362-52T>C | |
| ENST00000377012.8:c.2362-52T>C | ENSP00000366211.4:n.2362-52T>C | |
| ENST00000377016.8:c.2527-52T>C | ENSP00000366215.4:n.2527-52T>C | |
| ENST00000377034.8:c.2713-52T>C | ENSP00000366233.4:n.2713-52T>C | |
| ENST00000472823.5:c.*2120-52T>C | ENSP00000419356.1:n.*2120-52T>C | |
| ENST00000478931.1:n.435-52T>C | ||
| ENST00000491829.5:c.*2235-52T>C | ENSP00000417478.1:n.*2235-52T>C | |
| NM_001470.2:c.2713-52T>C | NP_001461.1:n.2713-52T>C | |
| NM_021903.2:c.2362-52T>C | NP_068703.1:n.2362-52T>C | |
| NM_021904.2:c.2527-52T>C | NP_068704.2:n.2527-52T>C | |
| XM_005248982.2:c.2728-52T>C | XP_005249039.1:n.2728-52T>C | |
| XM_006715047.2:c.2542-52T>C | XP_006715110.1:n.2542-52T>C | |
| XM_011514453.1:c.2521-52T>C | XP_011512755.1:n.2521-52T>C | |
| XM_011514454.1:c.2182-52T>C | XP_011512756.1:n.2182-52T>C | |
| NM_001319053.1:c.2182-52T>C | NP_001305982.1:n.2182-52T>C | |
| NM_001470.3:c.2713-52T>C | NP_001461.1:n.2713-52T>C | |
| NM_021904.3:c.2527-52T>C | NP_068704.2:n.2527-52T>C | |
| XM_006715047.4:c.2542-52T>C | XP_006715110.1:n.2542-52T>C | |
| XM_011514453.3:c.2521-52T>C | XP_011512755.1:n.2521-52T>C | |
| XM_024446392.1:c.2164-52T>C | XP_024302160.1:n.2164-52T>C | |
| XR_001743302.1:n.2530-52T>C | ||
| XR_001743303.1:n.2663-52T>C | ||
| NM_001470.4:c.2713-52T>C MANE Select | NP_001461.1:n.2713-52T>C | |
| NM_001319053.2:c.2182-52T>C | NP_001305982.1:n.2182-52T>C | |
| NM_021903.3:c.2362-52T>C | NP_068703.1:n.2362-52T>C | |
| NM_021904.4:c.2527-52T>C | NP_068704.2:n.2527-52T>C |