gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00105992 (AFR)
Genomes Max Group AF
0.00093729 (AFR)
Exomes Max Group AF
0.00103219 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128632799C>T , CM000671.2:g.128632799C>T | GRCh38 |
| NC_000009.11:g.131395078C>T , CM000671.1:g.131395078C>T | GRCh37 |
| NC_000009.10:g.130434899C>T | NCBI36 |
| NG_027748.1:g.85242C>T | |
| NG_034056.1:g.29052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.7197-9C>T | ENSP00000486547.2:n.7197-9C>T | |
| ENST00000630866.2:c.7224-9C>T | ENSP00000487444.1:n.7224-9C>T | |
| ENST00000704202.1:c.7248-9C>T | ENSP00000515764.1:n.7248-9C>T | |
| ENST00000704203.1:c.7197-9C>T | ENSP00000515765.1:n.7197-9C>T | |
| ENST00000704204.1:c.6687-9C>T | ENSP00000515766.1:n.6687-9C>T | |
| ENST00000704206.1:c.4766-9C>T | ||
| ENST00000704207.1:c.3103-9C>T | ||
| ENST00000706487.1:c.7161-9C>T | ENSP00000516412.1:n.7161-9C>T | |
| ENST00000372739.7:c.7161-9C>T MANE Select | ENSP00000361824.4:n.7161-9C>T | |
| ENST00000636010.1:n.885-9C>T | ||
| ENST00000358161.9:c.7086-9C>T | ENSP00000350882.6:n.7086-9C>T | |
| ENST00000372731.8:c.7146-9C>T | ENSP00000361816.4:n.7146-9C>T | |
| ENST00000372739.5:c.7161-9C>T | ENSP00000361824.3:n.7161-9C>T | |
| ENST00000625980.2:n.1115-9C>T | ||
| ENST00000630147.1:n.175C>T | ||
| ENST00000630763.1:n.918-9C>T | ||
| ENST00000630804.2:c.7101-9C>T | ENSP00000486308.1:n.7101-9C>T | |
| ENST00000630866.1:c.7224-9C>T | ENSP00000487444.1:n.7224-9C>T | |
| ENST00000630981.1:c.34-9C>T | ||
| NM_001130438.2:c.7161-9C>T | NP_001123910.1:n.7161-9C>T | |
| NM_001195532.1:c.7086-9C>T | NP_001182461.1:n.7086-9C>T | |
| NM_003127.3:c.7146-9C>T | NP_003118.2:n.7146-9C>T | |
| XM_006717245.1:c.7260-9C>T | XP_006717308.1:n.7260-9C>T | |
| XM_006717246.1:c.7245-9C>T | XP_006717309.1:n.7245-9C>T | |
| XM_006717247.1:c.7200-9C>T | XP_006717310.1:n.7200-9C>T | |
| XM_006717248.1:c.7197-9C>T | XP_006717311.1:n.7197-9C>T | |
| XM_006717249.1:c.7182-9C>T | XP_006717312.1:n.7182-9C>T | |
| XM_006717250.1:c.7179-9C>T | XP_006717313.1:n.7179-9C>T | |
| XM_006717251.1:c.7164-9C>T | XP_006717314.1:n.7164-9C>T | |
| XM_006717252.1:c.7137-9C>T | XP_006717315.1:n.7137-9C>T | |
| XM_006717253.1:c.7122-9C>T | XP_006717316.1:n.7122-9C>T | |
| XM_006717254.1:c.7224-9C>T | XP_006717317.1:n.7224-9C>T | |
| NM_001363759.1:c.7224-9C>T | NP_001350688.1:n.7224-9C>T | |
| NM_001363765.1:c.7101-9C>T | NP_001350694.1:n.7101-9C>T | |
| XM_006717247.2:c.7200-9C>T | XP_006717310.1:n.7200-9C>T | |
| XM_006717248.2:c.7197-9C>T | XP_006717311.1:n.7197-9C>T | |
| XM_006717251.2:c.7164-9C>T | XP_006717314.1:n.7164-9C>T | |
| XM_006717252.3:c.7137-9C>T | XP_006717315.1:n.7137-9C>T | |
| XM_017015059.1:c.7143-9C>T | XP_016870548.1:n.7143-9C>T | |
| XM_017015060.1:c.7119-9C>T | XP_016870549.1:n.7119-9C>T | |
| NM_001130438.3:c.7161-9C>T MANE Select | NP_001123910.1:n.7161-9C>T | |
| NM_001195532.2:c.7086-9C>T | NP_001182461.1:n.7086-9C>T | |
| NM_001363759.2:c.7224-9C>T | NP_001350688.1:n.7224-9C>T | |
| NM_001363765.2:c.7101-9C>T | NP_001350694.1:n.7101-9C>T | |
| NM_001375310.1:c.7248-9C>T | NP_001362239.1:n.7248-9C>T | |
| NM_001375311.2:c.7161-9C>T | NP_001362240.1:n.7161-9C>T | |
| NM_001375312.2:c.7197-9C>T | NP_001362241.2:n.7197-9C>T | |
| NM_001375313.1:c.7143-9C>T | NP_001362242.1:n.7143-9C>T | |
| NM_001375314.2:c.7101-9C>T | NP_001362243.1:n.7101-9C>T | |
| NM_001375318.1:c.7260-9C>T | NP_001362247.1:n.7260-9C>T | |
| NM_003127.4:c.7146-9C>T | NP_003118.2:n.7146-9C>T |