gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56244472 (NFE)
Genomes Max Group AF
0.56244472 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38464362C>T , CM000665.2:g.38464362C>T | GRCh38 |
| NC_000003.11:g.38505853C>T , CM000665.1:g.38505853C>T | GRCh37 |
| NC_000003.10:g.38480857C>T | NCBI36 |
| NG_011791.1:g.15064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352511.5:c.52+9988C>T MANE Select | ENSP00000340361.3:n.52+9988C>T | |
| ENST00000352511.4:c.52+9988C>T | ENSP00000340361.3:n.52+9988C>T | |
| ENST00000465020.5:n.56+9988C>T | ||
| NM_001106.3:c.52+9988C>T | NP_001097.2:n.52+9988C>T | |
| XM_005265583.2:c.115+4673C>T | XP_005265640.1:n.115+4673C>T | |
| XM_005265583.3:c.115+4673C>T | XP_005265640.1:n.115+4673C>T | |
| XM_017007514.1:c.94+4694C>T | XP_016863003.1:n.94+4694C>T | |
| XM_017007515.2:c.70+9678C>T | XP_016863004.1:n.70+9678C>T | |
| NM_001106.4:c.52+9988C>T MANE Select | NP_001097.2:n.52+9988C>T |