gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27064994 (AFR)
Genomes Max Group AF
0.27064994 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.148466870C>T , CM000668.2:g.148466870C>T | GRCh38 |
| NC_000006.11:g.148788006C>T , CM000668.1:g.148788006C>T | GRCh37 |
| NC_000006.10:g.148829699C>T | NCBI36 |
| NG_051927.1:g.199595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367467.8:c.387-1675C>T MANE Select | ENSP00000356437.3:n.387-1675C>T | |
| ENST00000637469.1:c.32-1675C>T | ||
| ENST00000367467.7:c.387-1675C>T | ENSP00000356437.3:n.387-1675C>T | |
| ENST00000470750.1:n.51-1675C>T | ||
| NM_015278.3:c.387-1675C>T | NP_056093.3:n.387-1675C>T | |
| XM_005266874.3:c.495-1675C>T | XP_005266931.1:n.495-1675C>T | |
| XM_006715406.2:c.351-1675C>T | XP_006715469.1:n.351-1675C>T | |
| XM_011535637.1:c.384-1675C>T | XP_011533939.1:n.384-1675C>T | |
| XM_011535638.1:c.360-1675C>T | XP_011533940.1:n.360-1675C>T | |
| XM_011535639.1:c.276-1675C>T | XP_011533941.1:n.276-1675C>T | |
| XM_011535640.1:c.252-1675C>T | XP_011533942.1:n.252-1675C>T | |
| NM_001346505.1:c.252-1675C>T | NP_001333434.1:n.252-1675C>T | |
| NM_001346506.1:c.15-1675C>T | NP_001333435.1:n.15-1675C>T | |
| NM_015278.4:c.387-1675C>T | NP_056093.3:n.387-1675C>T | |
| XM_017010598.2:c.387-1675C>T | XP_016866087.1:n.387-1675C>T | |
| XM_017010599.1:c.276-1675C>T | XP_016866088.1:n.276-1675C>T | |
| XM_017010600.1:c.252-1675C>T | XP_016866089.1:n.252-1675C>T | |
| XM_017010605.1:c.15-1675C>T | XP_016866094.1:n.15-1675C>T | |
| XM_024446384.1:c.276-1675C>T | XP_024302152.1:n.276-1675C>T | |
| NM_015278.5:c.387-1675C>T MANE Select | NP_056093.3:n.387-1675C>T | |
| NM_001346505.2:c.252-1675C>T | NP_001333434.1:n.252-1675C>T | |
| NM_001346506.2:c.15-1675C>T | NP_001333435.1:n.15-1675C>T |