gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128632120C>T , CM000671.2:g.128632120C>T | GRCh38 |
| NC_000009.11:g.131394399C>T , CM000671.1:g.131394399C>T | GRCh37 |
| NC_000009.10:g.130434220C>T | NCBI36 |
| NG_027748.1:g.84563C>T | |
| NG_034056.1:g.29731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.6799-7C>T | ENSP00000486547.2:n.6799-7C>T | |
| ENST00000630866.2:c.6826-7C>T | ENSP00000487444.1:n.6826-7C>T | |
| ENST00000704202.1:c.6850-7C>T | ENSP00000515764.1:n.6850-7C>T | |
| ENST00000704203.1:c.6799-7C>T | ENSP00000515765.1:n.6799-7C>T | |
| ENST00000704204.1:c.6289-7C>T | ENSP00000515766.1:n.6289-7C>T | |
| ENST00000704206.1:c.4368-7C>T | ||
| ENST00000704207.1:c.2705-7C>T | ||
| ENST00000706487.1:c.6763-7C>T | ENSP00000516412.1:n.6763-7C>T | |
| ENST00000372739.7:c.6763-7C>T MANE Select | ENSP00000361824.4:n.6763-7C>T | |
| ENST00000636010.1:n.480C>T | ||
| ENST00000358161.9:c.6688-7C>T | ENSP00000350882.6:n.6688-7C>T | |
| ENST00000372731.8:c.6748-7C>T | ENSP00000361816.4:n.6748-7C>T | |
| ENST00000372739.5:c.6763-7C>T | ENSP00000361824.3:n.6763-7C>T | |
| ENST00000625980.2:n.717-7C>T | ||
| ENST00000630763.1:n.513C>T | ||
| ENST00000630804.2:c.6703-7C>T | ENSP00000486308.1:n.6703-7C>T | |
| ENST00000630866.1:c.6826-7C>T | ENSP00000487444.1:n.6826-7C>T | |
| NM_001130438.2:c.6763-7C>T | NP_001123910.1:n.6763-7C>T | |
| NM_001195532.1:c.6688-7C>T | NP_001182461.1:n.6688-7C>T | |
| NM_003127.3:c.6748-7C>T | NP_003118.2:n.6748-7C>T | |
| XM_006717245.1:c.6862-7C>T | XP_006717308.1:n.6862-7C>T | |
| XM_006717246.1:c.6847-7C>T | XP_006717309.1:n.6847-7C>T | |
| XM_006717247.1:c.6802-7C>T | XP_006717310.1:n.6802-7C>T | |
| XM_006717248.1:c.6799-7C>T | XP_006717311.1:n.6799-7C>T | |
| XM_006717249.1:c.6784-7C>T | XP_006717312.1:n.6784-7C>T | |
| XM_006717250.1:c.6781-7C>T | XP_006717313.1:n.6781-7C>T | |
| XM_006717251.1:c.6766-7C>T | XP_006717314.1:n.6766-7C>T | |
| XM_006717252.1:c.6739-7C>T | XP_006717315.1:n.6739-7C>T | |
| XM_006717253.1:c.6724-7C>T | XP_006717316.1:n.6724-7C>T | |
| XM_006717254.1:c.6826-7C>T | XP_006717317.1:n.6826-7C>T | |
| NM_001363759.1:c.6826-7C>T | NP_001350688.1:n.6826-7C>T | |
| NM_001363765.1:c.6703-7C>T | NP_001350694.1:n.6703-7C>T | |
| XM_006717247.2:c.6802-7C>T | XP_006717310.1:n.6802-7C>T | |
| XM_006717248.2:c.6799-7C>T | XP_006717311.1:n.6799-7C>T | |
| XM_006717251.2:c.6766-7C>T | XP_006717314.1:n.6766-7C>T | |
| XM_006717252.3:c.6739-7C>T | XP_006717315.1:n.6739-7C>T | |
| XM_017015059.1:c.6745-7C>T | XP_016870548.1:n.6745-7C>T | |
| XM_017015060.1:c.6721-7C>T | XP_016870549.1:n.6721-7C>T | |
| NM_001130438.3:c.6763-7C>T MANE Select | NP_001123910.1:n.6763-7C>T | |
| NM_001195532.2:c.6688-7C>T | NP_001182461.1:n.6688-7C>T | |
| NM_001363759.2:c.6826-7C>T | NP_001350688.1:n.6826-7C>T | |
| NM_001363765.2:c.6703-7C>T | NP_001350694.1:n.6703-7C>T | |
| NM_001375310.1:c.6850-7C>T | NP_001362239.1:n.6850-7C>T | |
| NM_001375311.2:c.6763-7C>T | NP_001362240.1:n.6763-7C>T | |
| NM_001375312.2:c.6799-7C>T | NP_001362241.2:n.6799-7C>T | |
| NM_001375313.1:c.6745-7C>T | NP_001362242.1:n.6745-7C>T | |
| NM_001375314.2:c.6703-7C>T | NP_001362243.1:n.6703-7C>T | |
| NM_001375318.1:c.6862-7C>T | NP_001362247.1:n.6862-7C>T | |
| NM_003127.4:c.6748-7C>T | NP_003118.2:n.6748-7C>T |