gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8506726 (AFR)
Genomes Max Group AF
0.8506726 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158762530T>C , CM000668.2:g.158762530T>C | GRCh38 |
| NC_000006.11:g.159183562T>C , CM000668.1:g.159183562T>C | GRCh37 |
| NC_000006.10:g.159103550T>C | NCBI36 |
| NG_029794.1:g.117517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360448.8:c.1517+352T>C | ENSP00000353631.4:n.1517+352T>C | |
| ENST00000611299.5:c.1517+352T>C MANE Select | ENSP00000483936.1:n.1517+352T>C | |
| ENST00000297239.10:c.1517+352T>C | ENSP00000297239.9:n.1517+352T>C | |
| ENST00000360448.7:c.1517+352T>C | ENSP00000353631.4:n.1517+352T>C | |
| ENST00000367081.7:c.1313+352T>C | ENSP00000356048.4:n.1313+352T>C | |
| ENST00000611299.4:c.1517+352T>C | ENSP00000483936.1:n.1517+352T>C | |
| NM_001009991.3:c.1313+352T>C | NP_001009991.2:n.1313+352T>C | |
| NM_001242384.1:c.1517+352T>C | NP_001229313.1:n.1517+352T>C | |
| NM_001242394.1:c.1517+352T>C | NP_001229323.1:n.1517+352T>C | |
| NM_001242395.1:c.1313+352T>C | NP_001229324.1:n.1313+352T>C | |
| XM_005267214.3:c.1517+352T>C | XP_005267271.1:n.1517+352T>C | |
| XM_005267215.3:c.1517+352T>C | XP_005267272.1:n.1517+352T>C | |
| XM_005267218.3:c.899+352T>C | XP_005267275.1:n.899+352T>C | |
| XM_005267222.3:c.899+352T>C | XP_005267279.1:n.899+352T>C | |
| XM_006715605.2:c.1517+352T>C | XP_006715668.1:n.1517+352T>C | |
| XM_006715606.2:c.1517+352T>C | XP_006715669.1:n.1517+352T>C | |
| XM_006715607.2:c.1514+352T>C | XP_006715670.1:n.1514+352T>C | |
| XM_006715608.2:c.1313+352T>C | XP_006715671.1:n.1313+352T>C | |
| XM_006715609.2:c.1310+352T>C | XP_006715672.1:n.1310+352T>C | |
| XM_006715610.2:c.899+352T>C | XP_006715673.1:n.899+352T>C | |
| XM_006715611.2:c.899+352T>C | XP_006715674.1:n.899+352T>C | |
| XM_011536254.1:c.1517+352T>C | XP_011534556.1:n.1517+352T>C | |
| XM_011536255.1:c.914+352T>C | XP_011534557.1:n.914+352T>C | |
| XM_011536256.1:c.899+352T>C | XP_011534558.1:n.899+352T>C | |
| NM_001318745.1:c.899+352T>C | NP_001305674.1:n.899+352T>C | |
| XM_005267215.4:c.1517+352T>C | XP_005267272.1:n.1517+352T>C | |
| XM_005267218.4:c.899+352T>C | XP_005267275.1:n.899+352T>C | |
| XM_005267222.4:c.899+352T>C | XP_005267279.1:n.899+352T>C | |
| XM_006715605.3:c.1517+352T>C | XP_006715668.1:n.1517+352T>C | |
| XM_006715606.3:c.1517+352T>C | XP_006715669.1:n.1517+352T>C | |
| XM_006715611.3:c.899+352T>C | XP_006715674.1:n.899+352T>C | |
| XM_011536254.2:c.1517+352T>C | XP_011534556.1:n.1517+352T>C | |
| XM_011536255.2:c.914+352T>C | XP_011534557.1:n.914+352T>C | |
| XM_017011496.1:c.899+352T>C | XP_016866985.1:n.899+352T>C | |
| XM_017011497.1:c.899+352T>C | XP_016866986.1:n.899+352T>C | |
| XM_017011498.2:c.626+352T>C | XP_016866987.1:n.626+352T>C | |
| XM_024446588.1:c.1517+352T>C | XP_024302356.1:n.1517+352T>C | |
| NM_001009991.4:c.1313+352T>C | NP_001009991.2:n.1313+352T>C | |
| NM_001242384.2:c.1517+352T>C | NP_001229313.1:n.1517+352T>C | |
| NM_001242394.2:c.1517+352T>C MANE Select | NP_001229323.1:n.1517+352T>C | |
| NM_001242395.2:c.1313+352T>C | NP_001229324.1:n.1313+352T>C | |
| NM_001318745.2:c.899+352T>C | NP_001305674.1:n.899+352T>C |