ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36475642 (EAS)
Genomes Max Group AF
0.26318556 (EAS)
Exomes Max Group AF
0.38090125 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.156892896G>A , CM000669.2:g.156892896G>A | GRCh38 |
| NC_000007.13:g.156685590G>A , CM000669.1:g.156685590G>A | GRCh37 |
| NC_000007.12:g.156378351G>A | NCBI36 |
| NG_009240.1:g.5313C>T | |
| NG_009240.2:g.5313C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353442.10:c.66+32C>T MANE Select | ENSP00000326604.7:n.66+32C>T | |
| ENST00000353442.9:c.66+32C>T | ENSP00000326604.7:n.66+32C>T | |
| ENST00000359422.8:c.-391+32C>T | ENSP00000352392.4:n.-391+32C>T | |
| ENST00000414218.1:c.66+32C>T | ENSP00000392557.1:n.66+32C>T | |
| ENST00000415428.5:c.60+32C>T | ENSP00000408256.1:n.60+32C>T | |
| ENST00000430278.5:n.256+32C>T | ||
| ENST00000433968.5:n.256+32C>T | ||
| ENST00000434278.5:c.66+32C>T | ENSP00000413539.1:n.66+32C>T | |
| ENST00000434453.1:c.66+32C>T | ENSP00000397698.1:n.66+32C>T | |
| ENST00000434503.5:c.66+32C>T | ENSP00000395754.1:n.66+32C>T | |
| ENST00000444719.5:c.66+32C>T | ENSP00000393928.1:n.66+32C>T | |
| ENST00000454132.5:c.66+32C>T | ENSP00000414795.1:n.66+32C>T | |
| ENST00000485985.1:n.256+32C>T | ||
| NM_022458.3:c.66+32C>T | NP_071903.2:n.66+32C>T | |
| XM_005249555.2:c.66+32C>T | XP_005249612.1:n.66+32C>T | |
| XM_005249558.2:c.66+32C>T | XP_005249615.1:n.66+32C>T | |
| XR_428185.1:n.256+32C>T | ||
| XR_927508.1:n.256+32C>T | ||
| NM_001350953.1:c.66+32C>T | NP_001337882.1:n.66+32C>T | |
| NM_001350954.1:c.-74+32C>T | NP_001337883.1:n.-74+32C>T | |
| NM_001350955.1:c.-567+32C>T | NP_001337884.1:n.-567+32C>T | |
| NM_001350956.1:c.-469+32C>T | NP_001337885.1:n.-469+32C>T | |
| NM_001350957.1:c.-402+32C>T | NP_001337886.1:n.-402+32C>T | |
| NM_001350958.1:c.-469+32C>T | NP_001337887.1:n.-469+32C>T | |
| NM_001363409.1:c.66+32C>T | NP_001350338.1:n.66+32C>T | |
| NM_001363410.1:c.66+32C>T | NP_001350339.1:n.66+32C>T | |
| NM_001363411.1:c.-402+32C>T | NP_001350340.1:n.-402+32C>T | |
| NM_001363412.1:c.76+32C>T | NP_001350341.1:n.76+32C>T | |
| NM_001363413.1:c.-587+32C>T | NP_001350342.1:n.-587+32C>T | |
| NR_146958.1:n.281+32C>T | ||
| NR_146959.1:n.281+32C>T | ||
| XM_017012515.2:c.66+32C>T | XP_016868004.1:n.66+32C>T | |
| XR_001744847.1:n.256+32C>T | ||
| XR_001744848.1:n.256+32C>T | ||
| XR_001744850.1:n.256+32C>T | ||
| XR_002956477.1:n.256+32C>T | ||
| XR_002956478.1:n.256+32C>T | ||
| XR_002956479.1:n.255+32C>T | ||
| XR_002956480.1:n.256+32C>T | ||
| XR_002956481.1:n.256+32C>T | ||
| XR_002956482.1:n.217+32C>T | ||
| NM_001350953.2:c.66+32C>T | NP_001337882.1:n.66+32C>T | |
| NM_001350954.2:c.-74+32C>T | NP_001337883.1:n.-74+32C>T | |
| NM_001350955.2:c.-567+32C>T | NP_001337884.1:n.-567+32C>T | |
| NM_001350956.2:c.-469+32C>T | NP_001337885.1:n.-469+32C>T | |
| NM_001350957.2:c.-402+32C>T | NP_001337886.1:n.-402+32C>T | |
| NM_001350958.2:c.-469+32C>T | NP_001337887.1:n.-469+32C>T | |
| NM_001363409.2:c.66+32C>T | NP_001350338.1:n.66+32C>T | |
| NM_001363410.2:c.66+32C>T | NP_001350339.1:n.66+32C>T | |
| NM_001363411.2:c.-402+32C>T | NP_001350340.1:n.-402+32C>T | |
| NM_001363412.2:c.76+32C>T | NP_001350341.1:n.76+32C>T | |
| NM_001363413.2:c.-587+32C>T | NP_001350342.1:n.-587+32C>T | |
| NM_022458.4:c.66+32C>T MANE Select | NP_071903.2:n.66+32C>T | |
| NR_146958.2:n.256+32C>T | ||
| NR_146959.2:n.256+32C>T |