ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022979 (NFE)
Genomes Max Group AF
0.00012401 (NFE)
Exomes Max Group AF
0.00023228 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108878757G>C , CM000671.2:g.108878757G>C | GRCh38 |
| NC_000009.11:g.111641037G>C , CM000671.1:g.111641037G>C | GRCh37 |
| NC_000009.10:g.110680858G>C | NCBI36 |
| NG_008788.1:g.60572C>G , LRG_251:g.60572C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3573-7C>G MANE Select | ENSP00000363779.5:n.3573-7C>G | |
| ENST00000495759.6:c.*2183-7C>G | ENSP00000433514.2:n.*2183-7C>G | |
| ENST00000674535.1:c.3573-7C>G | ENSP00000502142.1:n.3573-7C>G | |
| ENST00000674704.1:n.6658-7C>G | ||
| ENST00000674740.1:n.456-7C>G | ||
| ENST00000674836.1:n.4186-7C>G | ||
| ENST00000674890.1:c.*808-7C>G | ENSP00000501870.1:n.*808-7C>G | |
| ENST00000674938.1:c.3231-7C>G | ENSP00000502427.1:n.3231-7C>G | |
| ENST00000674948.1:c.3231-7C>G | ENSP00000501602.1:n.3231-7C>G | |
| ENST00000675052.1:c.3573-7C>G | ENSP00000502664.1:n.3573-7C>G | |
| ENST00000675062.1:n.619-7C>G | ||
| ENST00000675078.1:c.3573-7C>G | ENSP00000501549.1:n.3573-7C>G | |
| ENST00000675215.1:c.*2797-7C>G | ENSP00000502558.1:n.*2797-7C>G | |
| ENST00000675233.1:n.5400-7C>G | ||
| ENST00000675321.1:c.3461-7C>G | ENSP00000502751.1:n.3461-7C>G | |
| ENST00000675325.1:n.5530-7C>G | ||
| ENST00000675335.1:c.3604-7C>G | ENSP00000502182.1:n.3604-7C>G | |
| ENST00000675370.1:n.232C>G | ||
| ENST00000675400.1:n.5425-7C>G | ||
| ENST00000675406.1:c.3573-7C>G | ENSP00000501893.1:n.3573-7C>G | |
| ENST00000675458.1:c.3666-7C>G | ENSP00000501754.1:n.3666-7C>G | |
| ENST00000675507.1:n.5369-7C>G | ||
| ENST00000675535.1:c.*1200-7C>G | ENSP00000501667.1:n.*1200-7C>G | |
| ENST00000675566.1:n.5431-7C>G | ||
| ENST00000675580.1:n.726-7C>G | ||
| ENST00000675602.1:n.6621-7C>G | ||
| ENST00000675647.1:n.4737-7C>G | ||
| ENST00000675711.1:c.3690-7C>G | ENSP00000502485.1:n.3690-7C>G | |
| ENST00000675727.1:c.3573-7C>G | ENSP00000501722.1:n.3573-7C>G | |
| ENST00000675748.1:n.5207-7C>G | ||
| ENST00000675765.1:c.*956-7C>G | ENSP00000502640.1:n.*956-7C>G | |
| ENST00000675825.1:c.3615-7C>G | ENSP00000502632.1:n.3615-7C>G | |
| ENST00000675877.1:n.5417-7C>G | ||
| ENST00000675893.1:c.*4642-7C>G | ENSP00000502001.1:n.*4642-7C>G | |
| ENST00000675943.1:n.7188-7C>G | ||
| ENST00000675979.1:c.*2816-7C>G | ENSP00000502208.1:n.*2816-7C>G | |
| ENST00000676044.1:c.*1233-7C>G | ENSP00000502378.1:n.*1233-7C>G | |
| ENST00000676086.1:n.5358-7C>G | ||
| ENST00000676121.1:n.5401-7C>G | ||
| ENST00000676162.1:n.302-7C>G | ||
| ENST00000676237.1:c.3516-7C>G | ENSP00000501828.1:n.3516-7C>G | |
| ENST00000676416.1:c.3273-7C>G | ENSP00000501660.1:n.3273-7C>G | |
| ENST00000676424.1:n.5411-7C>G | ||
| ENST00000676429.1:n.8042-7C>G | ||
| ENST00000374647.9:c.3573-7C>G | ENSP00000363779.5:n.3573-7C>G | |
| ENST00000495759.5:c.713-7C>G | ||
| ENST00000537196.1:c.2526-7C>G | ENSP00000439367.1:n.2526-7C>G | |
| NM_003640.3:c.3573-7C>G , LRG_251t1:c.3573-7C>G | NP_003631.2:n.3573-7C>G | |
| XM_005252285.2:c.3231-7C>G | XP_005252342.1:n.3231-7C>G | |
| XM_011519136.1:c.3615-7C>G | XP_011517438.1:n.3615-7C>G | |
| XM_011519137.1:c.3273-7C>G | XP_011517439.1:n.3273-7C>G | |
| NM_001318360.1:c.3231-7C>G | NP_001305289.1:n.3231-7C>G | |
| NM_001330749.1:c.2526-7C>G | NP_001317678.1:n.2526-7C>G | |
| NM_003640.4:c.3573-7C>G | NP_003631.2:n.3573-7C>G | |
| XM_011519136.2:c.3615-7C>G | XP_011517438.1:n.3615-7C>G | |
| XR_929859.3:n.3962-7C>G | ||
| NM_003640.5:c.3573-7C>G MANE Select | NP_003631.2:n.3573-7C>G | |
| NM_001318360.2:c.3231-7C>G | NP_001305289.1:n.3231-7C>G | |
| NM_001330749.2:c.2526-7C>G | NP_001317678.1:n.2526-7C>G |