gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41485732 (NFE)
Genomes Max Group AF
0.41485732 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.46985783G>A , CM000676.2:g.46985783G>A | GRCh38 |
| NC_000014.8:g.47454986G>A , CM000676.1:g.47454986G>A | GRCh37 |
| NC_000014.7:g.46524736G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399232.8:c.1820-28140C>T MANE Select | ENSP00000382178.4:n.1820-28140C>T | |
| ENST00000426342.7:c.1223-28140C>T | ENSP00000405456.4:n.1223-28140C>T | |
| ENST00000357362.7:c.926-28140C>T | ENSP00000349925.3:n.926-28140C>T | |
| ENST00000399232.6:c.1613-28140C>T | ENSP00000382178.3:n.1613-28140C>T | |
| ENST00000426342.5:c.1223-28140C>T | ENSP00000405456.2:n.1223-28140C>T | |
| ENST00000557238.5:c.*198-28140C>T | ENSP00000452593.1:n.*198-28140C>T | |
| NM_001113498.2:c.1613-28140C>T | NP_001106970.3:n.1613-28140C>T | |
| NM_182830.4:c.926-28140C>T | NP_878250.2:n.926-28140C>T | |
| XM_011536519.1:c.1685-28140C>T | XP_011534821.1:n.1685-28140C>T | |
| XM_011536520.1:c.1820-28140C>T | XP_011534822.1:n.1820-28140C>T | |
| XM_011536521.1:c.1526-65623C>T | XP_011534823.1:n.1526-65623C>T | |
| XM_011536522.1:c.*37+8861C>T | XP_011534824.1:n.*37+8861C>T | |
| XM_011536524.1:c.458-28140C>T | XP_011534826.1:n.458-28140C>T | |
| XM_011536525.1:c.293-28140C>T | XP_011534827.1:n.293-28140C>T | |
| XM_011536519.2:c.1685-28140C>T | XP_011534821.1:n.1685-28140C>T | |
| XM_011536522.3:c.*37+8861C>T | XP_011534824.1:n.*37+8861C>T | |
| XM_011536525.2:c.293-28140C>T | XP_011534827.1:n.293-28140C>T | |
| XM_017021060.1:c.458-28140C>T | XP_016876549.1:n.458-28140C>T | |
| XR_001750175.2:n.2314-28140C>T | ||
| NM_001113498.3:c.1820-28140C>T MANE Select | NP_001106970.4:n.1820-28140C>T |