gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26345307 (NFE)
Genomes Max Group AF
0.26345307 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54854239C>T , CM000664.2:g.54854239C>T | GRCh38 |
| NC_000002.11:g.55081376C>T , CM000664.1:g.55081376C>T | GRCh37 |
| NC_000002.10:g.54934880C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356458.8:c.1657+384C>T MANE Select | ENSP00000348842.6:n.1657+384C>T | |
| ENST00000356458.7:c.1657+384C>T | ENSP00000348842.6:n.1657+384C>T | |
| ENST00000673695.1:c.1657+384C>T | ENSP00000501148.1:n.1657+384C>T | |
| ENST00000673912.1:c.1657+384C>T | ENSP00000501234.1:n.1657+384C>T | |
| ENST00000356458.6:c.1657+384C>T | ENSP00000348842.6:n.1657+384C>T | |
| ENST00000493997.1:n.5+384C>T | ||
| NM_001039753.2:c.1657+384C>T | NP_001034842.2:n.1657+384C>T | |
| XM_011532835.1:c.931+384C>T | XP_011531137.1:n.931+384C>T | |
| XM_011532836.1:c.931+384C>T | XP_011531138.1:n.931+384C>T | |
| XM_011532837.1:c.931+384C>T | XP_011531139.1:n.931+384C>T | |
| XM_011532838.1:c.565+384C>T | XP_011531140.1:n.565+384C>T | |
| XM_011532839.1:c.466+384C>T | XP_011531141.1:n.466+384C>T | |
| XM_011532840.1:c.466+384C>T | XP_011531142.1:n.466+384C>T | |
| XM_017004098.2:c.1657+384C>T | XP_016859587.1:n.1657+384C>T | |
| XM_017004099.2:c.1657+384C>T | XP_016859588.1:n.1657+384C>T | |
| XM_017004100.2:c.1657+384C>T | XP_016859589.1:n.1657+384C>T | |
| XM_017004101.1:c.565+384C>T | XP_016859590.1:n.565+384C>T | |
| XM_017004102.1:c.1657+384C>T | XP_016859591.1:n.1657+384C>T | |
| XR_001738743.1:n.2481+384C>T | ||
| XR_002959298.1:n.2481+384C>T | ||
| NM_001039753.4:c.1657+384C>T MANE Select | NP_001034842.2:n.1657+384C>T |