gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35612923 (NFE)
Genomes Max Group AF
0.35612923 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37475971C>T , CM000665.2:g.37475971C>T | GRCh38 |
| NC_000003.11:g.37517462C>T , CM000665.1:g.37517462C>T | GRCh37 |
| NC_000003.10:g.37492466C>T | NCBI36 |
| NG_016166.1:g.28650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264741.10:c.420+2511C>T MANE Select | ENSP00000264741.5:n.420+2511C>T | |
| ENST00000264741.9:c.420+2511C>T | ENSP00000264741.5:n.420+2511C>T | |
| ENST00000422441.5:c.420+2511C>T | ENSP00000397258.1:n.420+2511C>T | |
| NM_002207.2:c.420+2511C>T | NP_002198.2:n.420+2511C>T | |
| NM_002207.3:c.420+2511C>T MANE Select | NP_002198.2:n.420+2511C>T |