gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45244421 (AFR)
Genomes Max Group AF
0.45244421 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80213989C>T , CM000669.2:g.80213989C>T | GRCh38 |
| NC_000007.13:g.79843305C>T , CM000669.1:g.79843305C>T | GRCh37 |
| NC_000007.12:g.79681241C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351004.8:c.874+1120C>T | ENSP00000343027.3:n.874+1120C>T | |
| ENST00000442586.2:c.874+1120C>T | ENSP00000391439.2:n.874+1120C>T | |
| ENST00000457358.7:c.718+1120C>T | ENSP00000410572.2:n.718+1120C>T | |
| ENST00000647672.1:c.1603C>T | ||
| ENST00000647742.1:c.*219+1120C>T | ENSP00000498098.1:n.*219+1120C>T | |
| ENST00000648097.1:n.820+1120C>T | ||
| ENST00000648098.1:c.874+1120C>T | ENSP00000497717.1:n.874+1120C>T | |
| ENST00000648306.1:c.874+1120C>T | ENSP00000497773.1:n.874+1120C>T | |
| ENST00000648375.1:c.*902+1120C>T | ENSP00000498111.1:n.*902+1120C>T | |
| ENST00000648412.1:c.874+1120C>T | ENSP00000497051.1:n.874+1120C>T | |
| ENST00000648449.1:n.843+1120C>T | ||
| ENST00000648476.1:c.874+1120C>T | ENSP00000497179.1:n.874+1120C>T | |
| ENST00000648528.1:n.2699+1120C>T | ||
| ENST00000648663.1:c.874+1120C>T | ENSP00000497379.1:n.874+1120C>T | |
| ENST00000648832.1:c.874+1120C>T | ENSP00000497765.1:n.874+1120C>T | |
| ENST00000648877.1:c.874+1120C>T | ENSP00000497760.1:n.874+1120C>T | |
| ENST00000648953.1:c.874+1120C>T | ENSP00000496800.1:n.874+1120C>T | |
| ENST00000649148.1:n.840+1120C>T | ||
| ENST00000649208.1:n.1141+1120C>T | ||
| ENST00000649214.1:c.*756+1120C>T | ENSP00000497058.1:n.*756+1120C>T | |
| ENST00000649225.1:c.874+1120C>T | ENSP00000496829.1:n.874+1120C>T | |
| ENST00000649267.1:c.874+1120C>T | ENSP00000497315.1:n.874+1120C>T | |
| ENST00000649485.1:n.1164+1120C>T | ||
| ENST00000649487.1:c.874+1120C>T | ENSP00000498091.1:n.874+1120C>T | |
| ENST00000649634.1:c.304-3314C>T | ENSP00000498159.1:n.304-3314C>T | |
| ENST00000649796.2:c.874+1120C>T MANE Select | ENSP00000497260.1:n.874+1120C>T | |
| ENST00000649855.1:c.874+1120C>T | ENSP00000497754.1:n.874+1120C>T | |
| ENST00000649922.1:c.*746+1120C>T | ENSP00000496836.1:n.*746+1120C>T | |
| ENST00000650431.1:c.*566+1120C>T | ENSP00000497785.1:n.*566+1120C>T | |
| ENST00000351004.7:c.874+1120C>T | ENSP00000343027.3:n.874+1120C>T | |
| ENST00000457358.6:c.718+1120C>T | ENSP00000410572.2:n.718+1120C>T | |
| NM_001256414.1:c.718+1120C>T | NP_001243343.1:n.718+1120C>T | |
| NM_002069.5:c.874+1120C>T | NP_002060.4:n.874+1120C>T | |
| NM_002069.6:c.874+1120C>T MANE Select | NP_002060.4:n.874+1120C>T | |
| NM_001256414.2:c.718+1120C>T | NP_001243343.1:n.718+1120C>T |