gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24538248 (EAS)
Genomes Max Group AF
0.24538248 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55955640C>T , CM000666.2:g.55955640C>T | GRCh38 |
| NC_000004.11:g.56821806C>T , CM000666.1:g.56821806C>T | GRCh37 |
| NC_000004.10:g.56516563C>T | NCBI36 |
| NG_032806.1:g.11833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706800.1:n.645+1257C>T | ||
| ENST00000257287.5:c.472+1257C>T MANE Select | ENSP00000257287.3:n.472+1257C>T | |
| ENST00000257287.4:c.472+1257C>T | ENSP00000257287.3:n.472+1257C>T | |
| ENST00000422247.6:c.472+1257C>T | ENSP00000412799.2:n.472+1257C>T | |
| ENST00000515081.1:n.106+1257C>T | ||
| NM_025009.4:c.472+1257C>T | NP_079285.2:n.472+1257C>T | |
| XM_006714055.2:c.472+1257C>T | XP_006714118.1:n.472+1257C>T | |
| XR_941064.1:n.472-3169G>A | ||
| XM_005265788.4:c.-596+1257C>T | XP_005265845.1:n.-596+1257C>T | |
| XM_006714055.3:c.472+1257C>T | XP_006714118.1:n.472+1257C>T | |
| NM_025009.5:c.472+1257C>T MANE Select | NP_079285.2:n.472+1257C>T |