gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60195708 (EAS)
Genomes Max Group AF
0.60195708 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126654076G>A , CM000665.2:g.126654076G>A | GRCh38 |
| NC_000003.11:g.126372919G>A , CM000665.1:g.126372919G>A | GRCh37 |
| NC_000003.10:g.127855609G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523403.3:c.243+672C>T | ENSP00000429584.3:n.243+672C>T | |
| ENST00000524230.9:c.243+672C>T MANE Select | ENSP00000430031.4:n.243+672C>T | |
| ENST00000523403.1:c.243+672C>T | ENSP00000429584.2:n.243+672C>T | |
| ENST00000524230.6:c.243+672C>T | ENSP00000430031.3:n.243+672C>T | |
| NM_001173513.1:c.243+672C>T | NP_001166984.1:n.243+672C>T | |
| NM_052883.1:c.243+672C>T | NP_443115.1:n.243+672C>T | |
| NM_052883.2:c.243+672C>T | NP_443115.1:n.243+672C>T | |
| NM_001173513.2:c.243+672C>T | NP_001166984.1:n.243+672C>T | |
| NM_001173513.3:c.243+672C>T | NP_001166984.1:n.243+672C>T | |
| NM_052883.3:c.243+672C>T MANE Select | NP_443115.1:n.243+672C>T |