gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14065069 (AFR)
Genomes Max Group AF
0.14065069 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.130935224T>G , CM000668.2:g.130935224T>G | GRCh38 |
| NC_000006.11:g.131256364T>G , CM000668.1:g.131256364T>G | GRCh37 |
| NC_000006.10:g.131298057T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706365.1:c.706-8515A>C | ENSP00000516350.1:n.706-8515A>C | |
| ENST00000337057.8:c.706-8515A>C MANE Select | ENSP00000338481.3:n.706-8515A>C | |
| ENST00000639623.1:c.682-8515A>C | ENSP00000494672.1:n.682-8515A>C | |
| ENST00000337057.7:c.706-8515A>C | ENSP00000338481.3:n.706-8515A>C | |
| ENST00000368128.6:c.706-8515A>C | ENSP00000357110.2:n.706-8515A>C | |
| ENST00000392427.7:c.706-8515A>C | ENSP00000376222.3:n.706-8515A>C | |
| ENST00000445890.6:c.706-8515A>C | ENSP00000402041.2:n.706-8515A>C | |
| ENST00000525193.5:c.706-8515A>C | ENSP00000431988.1:n.706-8515A>C | |
| ENST00000525271.5:c.706-8515A>C | ENSP00000432803.1:n.706-8515A>C | |
| ENST00000526333.1:n.103-8515A>C | ||
| ENST00000527411.5:c.706-8515A>C | ENSP00000436348.1:n.706-8515A>C | |
| ENST00000527659.5:c.706-8515A>C | ENSP00000431647.1:n.706-8515A>C | |
| ENST00000528179.5:n.92-8515A>C | ||
| ENST00000528282.5:c.706-8515A>C | ENSP00000434308.1:n.706-8515A>C | |
| ENST00000529208.5:c.706-8515A>C | ENSP00000436641.1:n.706-8515A>C | |
| ENST00000530148.5:n.137-8515A>C | ||
| ENST00000530481.5:c.706-8515A>C | ENSP00000434576.1:n.706-8515A>C | |
| ENST00000610431.4:c.706-8515A>C | ENSP00000477544.1:n.706-8515A>C | |
| ENST00000628542.2:c.706-8515A>C | ENSP00000486691.1:n.706-8515A>C | |
| NM_001135554.1:c.706-8515A>C | NP_001129026.1:n.706-8515A>C | |
| NM_001135555.3:c.706-8515A>C | NP_001129027.1:n.706-8515A>C | |
| NM_001199388.2:c.706-8515A>C | NP_001186317.1:n.706-8515A>C | |
| NM_001252660.1:c.706-8515A>C | NP_001239589.1:n.706-8515A>C | |
| NM_001431.3:c.706-8515A>C | NP_001422.1:n.706-8515A>C | |
| XM_005266840.1:c.706-8515A>C | XP_005266897.1:n.706-8515A>C | |
| XM_005266841.1:c.706-8515A>C | XP_005266898.1:n.706-8515A>C | |
| XM_006715356.1:c.706-8515A>C | XP_006715419.1:n.706-8515A>C | |
| XM_006715362.1:c.706-8515A>C | XP_006715425.1:n.706-8515A>C | |
| XM_011535521.1:c.706-8515A>C | XP_011533823.1:n.706-8515A>C | |
| XM_011535522.1:c.706-8515A>C | XP_011533824.1:n.706-8515A>C | |
| XM_011535523.1:c.706-8515A>C | XP_011533825.1:n.706-8515A>C | |
| XM_011535524.1:c.706-8515A>C | XP_011533826.1:n.706-8515A>C | |
| XM_011535525.1:c.706-8515A>C | XP_011533827.1:n.706-8515A>C | |
| XM_011535526.1:c.706-8515A>C | XP_011533828.1:n.706-8515A>C | |
| XM_011535527.1:c.706-8515A>C | XP_011533829.1:n.706-8515A>C | |
| XM_011535528.1:c.706-8515A>C | XP_011533830.1:n.706-8515A>C | |
| XM_011535529.1:c.706-8515A>C | XP_011533831.1:n.706-8515A>C | |
| XM_011535530.1:c.706-8515A>C | XP_011533832.1:n.706-8515A>C | |
| XM_011535531.1:c.706-8515A>C | XP_011533833.1:n.706-8515A>C | |
| XM_011535532.1:c.706-8515A>C | XP_011533834.1:n.706-8515A>C | |
| XM_011535533.1:c.706-8515A>C | XP_011533835.1:n.706-8515A>C | |
| XM_011535534.1:c.706-8515A>C | XP_011533836.1:n.706-8515A>C | |
| XM_011535535.1:c.-501-8515A>C | XP_011533837.1:n.-501-8515A>C | |
| XM_011535536.1:c.706-8515A>C | XP_011533838.1:n.706-8515A>C | |
| XR_942326.1:n.888-8515A>C | ||
| XR_942328.1:n.888-8515A>C | ||
| NM_001350299.1:c.706-8515A>C | NP_001337228.1:n.706-8515A>C | |
| NM_001350301.1:c.706-8515A>C | NP_001337230.1:n.706-8515A>C | |
| NM_001350302.1:c.706-8515A>C | NP_001337231.1:n.706-8515A>C | |
| NM_001350303.1:c.706-8515A>C | NP_001337232.1:n.706-8515A>C | |
| NM_001350304.1:c.706-8515A>C | NP_001337233.1:n.706-8515A>C | |
| NM_001350305.1:c.706-8515A>C | NP_001337234.1:n.706-8515A>C | |
| NM_001350306.1:c.706-8515A>C | NP_001337235.1:n.706-8515A>C | |
| NM_001350307.1:c.706-8515A>C | NP_001337236.1:n.706-8515A>C | |
| NM_001350308.1:c.706-8515A>C | NP_001337237.1:n.706-8515A>C | |
| NM_001350309.1:c.706-8515A>C | NP_001337238.1:n.706-8515A>C | |
| NM_001350310.1:c.706-8515A>C | NP_001337239.1:n.706-8515A>C | |
| NM_001350311.1:c.706-8515A>C | NP_001337240.1:n.706-8515A>C | |
| NM_001350312.1:c.706-8515A>C | NP_001337241.1:n.706-8515A>C | |
| NM_001350313.1:c.706-8515A>C | NP_001337242.1:n.706-8515A>C | |
| NM_001350314.1:c.706-8515A>C | NP_001337243.1:n.706-8515A>C | |
| NM_001350315.1:c.706-8515A>C | NP_001337244.1:n.706-8515A>C | |
| NM_001350320.1:c.-501-8515A>C | NP_001337249.1:n.-501-8515A>C | |
| NR_146620.1:n.169-8515A>C | ||
| XM_011535524.2:c.706-8515A>C | XP_011533826.1:n.706-8515A>C | |
| XM_011535525.2:c.706-8515A>C | XP_011533827.1:n.706-8515A>C | |
| XM_011535527.2:c.706-8515A>C | XP_011533829.1:n.706-8515A>C | |
| XM_011535528.2:c.706-8515A>C | XP_011533830.1:n.706-8515A>C | |
| XM_017010350.2:c.706-8515A>C | XP_016865839.1:n.706-8515A>C | |
| XM_017010351.1:c.706-8515A>C | XP_016865840.1:n.706-8515A>C | |
| XM_017010352.1:c.706-8515A>C | XP_016865841.1:n.706-8515A>C | |
| XM_017010353.2:c.706-8515A>C | XP_016865842.1:n.706-8515A>C | |
| XM_017010356.2:c.706-8515A>C | XP_016865845.1:n.706-8515A>C | |
| XM_017010364.1:c.-501-8515A>C | XP_016865853.1:n.-501-8515A>C | |
| XM_024446349.1:c.706-8515A>C | XP_024302117.1:n.706-8515A>C | |
| XR_001743213.2:n.817-8515A>C | ||
| XR_001743215.2:n.817-8515A>C | ||
| XR_001743216.2:n.817-8515A>C | ||
| XR_001743217.2:n.817-8515A>C | ||
| NM_001431.4:c.706-8515A>C MANE Select | NP_001422.1:n.706-8515A>C | |
| NM_001135554.2:c.706-8515A>C | NP_001129026.1:n.706-8515A>C | |
| NM_001135555.4:c.706-8515A>C | NP_001129027.1:n.706-8515A>C | |
| NM_001199388.3:c.706-8515A>C | NP_001186317.1:n.706-8515A>C | |
| NM_001252660.2:c.706-8515A>C | NP_001239589.1:n.706-8515A>C | |
| NM_001350299.2:c.706-8515A>C | NP_001337228.1:n.706-8515A>C | |
| NM_001350301.2:c.706-8515A>C | NP_001337230.1:n.706-8515A>C | |
| NM_001350302.2:c.706-8515A>C | NP_001337231.1:n.706-8515A>C | |
| NM_001350303.2:c.706-8515A>C | NP_001337232.1:n.706-8515A>C | |
| NM_001350304.2:c.706-8515A>C | NP_001337233.1:n.706-8515A>C | |
| NM_001350305.2:c.706-8515A>C | NP_001337234.1:n.706-8515A>C | |
| NM_001350306.2:c.706-8515A>C | NP_001337235.1:n.706-8515A>C | |
| NM_001350307.2:c.706-8515A>C | NP_001337236.1:n.706-8515A>C | |
| NM_001350308.2:c.706-8515A>C | NP_001337237.1:n.706-8515A>C | |
| NM_001350310.2:c.706-8515A>C | NP_001337239.1:n.706-8515A>C | |
| NM_001350311.2:c.706-8515A>C | NP_001337240.1:n.706-8515A>C | |
| NM_001350312.2:c.706-8515A>C | NP_001337241.1:n.706-8515A>C | |
| NM_001350313.2:c.706-8515A>C | NP_001337242.1:n.706-8515A>C | |
| NM_001350314.2:c.706-8515A>C | NP_001337243.1:n.706-8515A>C | |
| NM_001350315.2:c.706-8515A>C | NP_001337244.1:n.706-8515A>C | |
| NM_001350320.2:c.-501-8515A>C | NP_001337249.1:n.-501-8515A>C | |
| NR_146620.2:n.92-8515A>C |